TEST CATALOG - Genetyca ICM · ICM100435 Areolar choroidal dystrophy central type 2. Gene PRPH2 45 days ICM100289 Arginase deficiency. Gene ARG1 45 days ICM100290 Argininosuccinate

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TEST CATALOG

PATHOLOGY | GENETIC STUDIES

TESTCATALOG GENERAL PATHOLOGY|GENETICSTUDIES

GENETYCA|InstitutodeEstudosCelulareseMoleculares-Portugal

ICMcode Pathologydefinition TATICM102577 13qdeletionFISH 15days

ICM102579 20qdeletionFISH 15days

ICM100676 21-hydroxylasedeficientcongenitaladrenalhyperplasia.CYP21A2gene 45days

ICM102146 3-methylcrotonyldeficitCoAcarboxylasetype1.GeneMCCC1.CompletesequencingSanger. 45days

ICM102147 3-methylcrotonyldeficitCoAcarboxylasetype2.GeneMCCC2.CompletesequencingSanger. 45days

ICM100026 3-methylglutaconicaciduriatype1.GeneAUH 45days

ICM100027 3-methylglutaconicaciduriatype2GeneTAZ 45days

ICM100028 3-methylglutaconicaciduriatype3.GeneOPA3 45days

ICM100029 3-methylglutaconicaciduriatype5.GeneDNAJC19 45days

ICM101227 3Msyndrometype1.GeneCUL7 45days

ICM101228 3Msyndrometype2.GeneOBSL1 45days

ICM101229 3Msyndrometype3.GeneCCDC8 45days

ICM102581 6qdeletionFISH 15days

ICM101947 Aarskogsyndrome.GeneFGD1.CompletesequencingSanger. 45days

ICM102684 Aarskogsyndrome.GeneFGD1.Deletions-duplications(MLPA). 30days

ICM102180 Abetalipoproteinemia.GeneMTTP.CompletesequencingSanger. 45days

ICM101683 ACEgene.I/Dpolymorphism. 20days

ICM100010 Aceruloplasminemia.GeneCP 45days

ICM101833 AchondrogenesistypeII.COL2A1gene.CompletesequencingSanger. 45days

ICM100040 Achondroplasia.FGFR3gene 45days

ICM101953 Achondroplasia.FGFR3gene.Exons7,8,11and13. 25days

ICM101955 Achondroplasia.FGFR3gene.Mutationsc.G1138A;c.G1138C. 15days

ICM101956 Achondroplasia.FGFR3gene.MutationsI538V;N540T;N540S;N540K;K650N;K650M;K650Q 20days

ICM101957 Achondroplasia.FGFR3gene.Mutationsp.G380R;p.G375C. 15days

ICM101954 Achondroplasia.FGFR3gene.N540Kmutation. 15days

ICM101827 Achromatopsiatype2CNGA3Gen.CompletesequencingSanger. 45days

ICM101828 Achromatopsiatype3.GeneCNGB3.CompletesequencingSanger. 45days

ICM102023 Achromatopsiatype4.GeneGNAT2.CompletesequencingSanger. 45days

ICM102269 Achromatopsia.GenePDE6C.CompletesequencingSanger. 45days

ICM102667 AciduriaD-2-hydroxyglutaric.GeneD2HGDH.Deletions-duplications(MLPA). 30days

ICM100031 AciduriaL-2-hydroxyglutaric.GeneL2HGDH 45days

ICM102311 Acrodysostosis.GenePRKAR1A.CompletesequencingSanger. 45days

ICM100375 AcrofacialdysostosisWeyers.GenesEVC,EVC2 45days

ICM101921 Acrofacialdysostosis,Weyerstype.EVCgene.CompletesequencingSanger. 45days

ICM102235 AcromesomelicdysplasiaMaroteauxtype.GeneNPR2.CompletesequencingSanger. 45days

ICM101193 Acutehepaticporphyria.ALADgene 45days

ICM101190 Acuteintermittentporphyria.GeneHMBS 45days

ICM102710 Acuteintermittentporphyria.GeneHMBS.Deletions-duplications(MLPA). 30days

ICM101732 Acutemyelogenousleukemia/myelodysplasticsyndrome.ASXL1genesequencingexon12 15days

ICM101968 Acutemyelogenousleukemia.FLT3gene.Asp835mutation. 15days

ICM101967 Acutemyelogenousleukemia.FLT3gene.internaltandemduplication. 45days

ICM101799 Acutemyelogenousleukemia.GeneCEBPAcompleteSangersequencing. 45days

ICM102786 Acutemyeloidleukemia.GeneRUNX1.Deletions-duplications(MLPA). 30days

ICM102234 Acutemyeloidleukemia.NPM1gene.CompletesequencingSanger. 45days

ICM102233 Acutemyeloidleukemia.NPM1gene.Sequencingexon12. 15days

ICM101842 Acuteporphyria(intermittent,Coproporphyria,Variagate.GeneCPOX.CompletesequencingSanger. 45days

ICM102672 Adams-Oliversyndrome.GeneDOCK6.Deletions-duplications(MLPA). 30days



ICMcode Pathologydefinition TATICM100284 Adeninephosphoribosyltransferasedeficiency.APRTgene 45days

ICM100286 Adenosinedeaminasedeficiency.ADAgene 45days

ICM102870 AdenovirusDNAdetection. 10days

ICM100046 Adrenoleukodystrophy.GeneABCD1 45days

ICM101959 Afibrinogenaemiacongenital.FGGgene.CompletesequencingSanger. 45days

ICM100048 Agammaglobulinemia3.GeneCD79A 45days

ICM100049 Agammaglobulinemia4.GeneBLNK 45days

ICM100050 Agammaglobulinemia6.GeneCD79B 45days

ICM101239 Aicardi-Goutièressyndrometype1.GeneTREX1 45days

ICM101240 Aicardi-Goutièressyndrometype2.GeneRNASEH2B 45days

ICM101241 Aicardi-Goutièressyndrometype3.GenRNASEH2C 45days

ICM101242 Aicardi-Goutièressyndrometype4.GeneRNASEH2A 45days

ICM101243 Aicardi-Goutièressyndrometype5.GeneSAMHD1 45days

ICM102084 Alagillesyndrome.GeneJAG1.CompletesequencingSanger. 30days

ICM102718 Alagillesyndrome.GeneJAG1.Deletions-duplications(MLPA). 30days

ICM102705 Albrightosteodystrophy.GNASgene.Deletions-duplications(MLPA). 30days

ICM100059 Alcaptonuria.HGDgene 45days

ICM100501 Alexanderdisease.GFAPgene 45days

ICM102007 Alexander'sdisease.GFAPgene.CompletesequencingSanger. 45days

ICM100062 Alfa-Mannosidosis.GeneMAN2B1 45days

ICM100888 Almacenamientimyopathymyosin.GeneMYH7 45days

ICM100894 AlphaandBetacelldisease.GeneGNPTAB 45days

ICM101682 Alphamethylacetoacetylaciduria.GeneACAT1.CompletesequencingSanger. 45days

ICM100061 Alpha-1-antitrypsin.GeneSERPINA1 45days

ICM102039 Alpha-thalassemia.GeneHBA(HBA1/HBA2).CompletesequencingSanger. 45days

ICM102565 Alpha-thalassemia.GenesHBA(HBA1/HBA2).Deletionsα3.7,α4.2,α20.5,αSEA,αFILandαMED. 25days

ICM102852 Alpha-thalassemia.HBA1genes,HBA2.Deletions-duplications(MLPA). 30days

ICM100287 Alpha1-antitrypsindeficiency.GeneSERPINA1 45days

ICM101246 AlportsyndromeX-linkedgeneCOL4A5 45days

ICM101834 Alportsyndrome.COL4A3gene.CompletesequencingSanger. 45days

ICM102660 Alportsyndrome.COL4A3gene.Deletions-duplications(MLPA). 30days





ICM101247 Alströmsyndrome.GeneALMS1 45days

ICM101737 Alternatinghemiplegiaofchildhood.GeneATP1A3.CompletesequencingSanger. 45days

ICM102848 Alveolarcapillarydysplasia.GenesFOXF1,MYCN,FOXC2,FOXL1.Deletions-duplications(MLPA). 30days

ICM102625 Alzheimerdiseasetype1.APPgene.Deletions-duplications(MLPA). 30days

ICM102326 Alzheimerdiseasetype4.GenePSEN2.CompletesequencingSanger. 45days

ICM102837 Alzheimerdisease.GenesAPP/PSEN1,PSEN2.Deletions-duplications(MLPA). 30days

ICM101718 Alzheimertype1disease.APPgene.CompletesequencingSanger. 45days

ICM101717 Alzheimertype2disease.APOEgene.Genotyping.(E2/e2,e3/e3,e4/e4,e2/e3,e2/e3e4/e4) 20days

ICM102777 Alzheimertype3disease.GenePSEN1.Deletions-duplications(MLPA). 30days

ICM101581 Amegakaryocyticcongenitalthrombocytopenia.MPLgene 45days

ICM102165 Amegakaryocyticcongenitalthrombocytopenia.MPLgene.W515Lmutation. 15days

ICM101332 Amishchildhoodepilepsysyndrome.GeneST3GAL5 45days



ICMcode Pathologydefinition TATICM100819 Amishlethalmicrocephalyof.GeneSLC25A19 45days

ICM101712 Amyloidosis.GeneAPOA1.CompletesequencingSanger. 45days

ICM100613 Amyotrophiclateralsclerosistype1.SOD1gene 45days

ICM100614 Amyotrophiclateralsclerosistype10.GeneTARDBP 45days

ICM100615 Amyotrophiclateralsclerosistype11.GenFIG4 45days

ICM100616 Amyotrophiclateralsclerosistype12.GeneOPTN 45days

ICM100617 Amyotrophiclateralsclerosistype14.GeneVCP 45days

ICM100618 Amyotrophiclateralsclerosistype15.GeneUBQLN2 45days

ICM100619 Amyotrophiclateralsclerosistype16.GeneSIGMAR1 45days

ICM100620 Amyotrophiclateralsclerosistype17.GeneCHMP2B 45days

ICM100621 Amyotrophiclateralsclerosistype18.GenePFN1 45days

ICM100622 Amyotrophiclateralsclerosistype2.GeneALS2 45days

ICM100623 Amyotrophiclateralsclerosistype20.GeneHNRNPA1 45days

ICM100624 Amyotrophiclateralsclerosistype21.GeneMATR3 45days

ICM100625 Amyotrophiclateralsclerosistype4.GeneSETX 45days

ICM100626 Amyotrophiclateralsclerosistype6.GeneFUS 45days

ICM100627 Amyotrophiclateralsclerosistype8.GeneVAPB 45days

ICM100628 Amyotrophiclateralsclerosistype9.GeneANG 45days

ICM101873 AmyotrophyScapuloperoneal:Kaesersyndrome.DESgene.CompletesequencingSanger. 45days

ICM101621 Analsisgenetichypercholesterolemiarisk 20days

ICM101083 Analysisof>500genesinvolvedinresponse,prediction,toxicityorselectionofchemotherapy.LIQUIDBIOPSY 12days

ICM101248 Andersen-Tawilsyndrome.GeneKCNJ2 45days

ICM102627 Androgeninsensitivity.ARgene.Deletions-duplications(MLPA). 30days

ICM101362 AndroGeneinsensitivitysyndrome.ARgene 45days

ICM101721 Androgynousinsensitivity.ARgene.CAGexpansion. 30days

ICM101722 Androgynousinsensitivity.ARgene.CompletesequencingSanger. 45days

ICM102535 Angelmansyndrome.GeneUBE3A.CompletesequencingSanger. 45days

ICM102830 Angelmansyndrome.GeneUBE3A.Deletions-duplications(MLPA). 30days

ICM100386 AnhidroticectodermaldysplasiaTcellsdeficiency.GeneNFKBIA 45days

ICM100387 Anhidroticectodermaldysplasiawithimmunedeficiency,osteopetrosisandlymphedema.GeneIKBKG 45days

ICM100389 Anhidroticectodermaldysplasiawithimmunodeficiencyosteopetrosisandlymphedema.GeneIKBKG 45days

ICM100388 AnhidroticectodermaldysplasiawithimmunodeficiencyTcell.GeneNFKBIA 45days

ICM102843 AnhidroticectodermaldysplasiaX-linked.GenesEDA,EDAR,EDARADD,WNT10A.(MLPA). 30days

ICM102076Anhidroticectodermaldysplasia;immunodeficiency,osteopetrosisandlymphedema.IKBKGgene(NEMO).CompletesequencingSanger

45days

ICM102075Anhidroticectodermaldysplasia;immunodeficiency,osteopetrosisandlymphedema.IKBKGgene(NEMO).Deletionexons4to10

45days

ICM101894 Anhidroticectodermaldysplasia.EDARgene.CompletesequencingSanger. 45days

ICM101895 Anhidroticectodermaldysplasia.GeneEDARADD.CompletesequencingSanger. 45days

ICM101893 AnhidroticX-linkedectodermaldysplasia.GeneEDA(ED1).CompletesequencingSanger. 45days

ICM100983 Aniridia.GenePAX6 45days

ICM102760 Aniridia.GenePAX6.Deletions-duplications(MLPA). 30days

ICM100098 AnophthalmiarelatedtoPAX6.GenePAX6 45days

ICM102395 AntithrombinIIIdeficiency.SERPINC1gene(AT3).CompletesequencingSanger. 45days

ICM100093 Aorticaneurysmfamilytype6.GenethoracicACTA2 45days

ICM101908 AorticStenosissupravalvular.ELNgene.CompletesequencingSanger. 45days

ICM101253 Apertsyndrome.FGFR2gene 45days

ICM102556 Aplasia/hypoplasiaoflimbsandpelvis-PhocomeliaSchinzeltype.GeneWNT7A 45days



ICMcode Pathologydefinition TATICM101535 Aplasiacongenitaldeafnesswithlabyrinth,microtiaandmicrodontia.FGFR3gene 45days

ICM100100 Arachnodactylycontracturalcongenital.GeneFBN2 45days

ICM100435 Areolarchoroidaldystrophycentraltype2.GenePRPH2 45days

ICM100289 Arginasedeficiency.GeneARG1 45days

ICM100290 Argininosuccinatelyasedeficiency.GeneASL 45days

ICM100030 Argininosuccinicaciduria.GeneASL 45days

ICM102283 Arrhythmogenicrightventriculardysplasiatype9.GenePKP2.CompletesequencingSanger. 45days

ICM101463 Arterialtortuositysyndrome.GeneSLC2A10 45days

ICM100104 Arteriopathywithsubcorticalcerebralinfarctsandleukoencephalopathy.GenesNOTCH3,HTRA1 45days

ICM101411 Arteriovenousmalformationsyndromecapillary-malformation.GeneRASA1 45days

ICM101254 Artssyndrome.GenePRPS1 45days

ICM100106 Aspartylglucosaminuria.AGAgene 45days

ICM102073 Asphyxiatingthoracicdystrophytype2.GeneIFT80.CompletesequencingSanger. 45days

ICM101719 Ataxia-oculomotorapraxiatype1.GeneAPTX.CompletesequencingSanger. 45days

ICM102797 Ataxia-oculomotorapraxiatype2.SETXGen.Deletions-duplications(MLPA). 30days

ICM102626 Ataxia-oculomotorapraxiatype.GeneAPTX.Deletions-duplications(MLPA). 30days

ICM100123 AtaxiaandsideroblasticanemiaX-linke.GeneABCB7 45days

ICM100121 Ataxiatelangiectasia.ATMgene 45days

ICM102632 Ataxiatelangiectasia.ATMgene.Deletions-duplications(MLPA). 30days

ICM100108 Ataxiawithoculomotorapraxiatype1.GeneAPTX 45days

ICM100109 Ataxiawithoculomotorapraxiatype2GeneSETX 45days

ICM100110 AtaxiawithvitaminEdeficiencyGeneAPTT 45days

ICM100124 Atelosteogenesistype1.GeneFLNB 45days

ICM100125 AtelosteogenesisType1B.SLC26A2gene 45days

ICM100126 Atelosteogenesistype2.GeneSLC26A2 45days

ICM100127 Atelosteogenesistype3.GeneFLNB 45days

ICM100307 ATPsynthasedeficiency,nucleartype1.GeneATPAF2 45days

ICM101735 AtrophydentatothalamocorticalcategorypallidoluysianLouisiana.GeneATN1(DRPLA).CAGexpansion. 30days

ICM102246 Atrophyopticaltype1.GeneOPA1.CompletesequencingSanger. 45days

ICM102755 Atrophyopticaltype1.GeneOPA1.Deletions-duplications(MLPA). 30days

ICM102247 Atrophyopticaltype3.GeneOPA3.CompletesequencingSanger. 45days

ICM101708 Atypicalglycineencephalopathy.AMTgene.CompletesequencingSanger. 45days

ICM102702 Atypicalglycineencephalopathy.GeneGLDC.Deletions-duplications(MLPA). 30days

ICM102644 Atypicalhemolyticuremicsyndrome(atypicalform).CFHgene.Deletions-duplications(MLPA). 30days

ICM102841 Atypicalhemolyticuremicsyndrome.CD46gene,CFI.Deletions-duplications(MLPA). 30days

ICM101976 Autoimmuneenteropathy1-IPEXsyndrome.FOXP3gene.CompletesequencingSanger. 45days

ICM101513 AutoimmunelymphoproliferativesyndrometypeIA.FASgene 45days

ICM101514 AutoimmunelymphoproliferativesyndrometypeIB.GeneFASLG 45days

ICM101515 AutoimmunelymphoproliferativesyndrometypeIIA.GeneCASP10 45days

ICM101939 Autoimmunelymphoproliferativesyndrome.GeneFASLG.CompletesequencingSanger. 45days

ICM101697 Autoimmunepolyendocrinopathy1.GeneAIR.CompletesequencingSanger. 45days

ICM100346 Autosomaldiabetesinsipidusinsipidus.AQP2gene 45days

ICM101211 Autosomaldominanthypophosphatemicrickets.FGF23gene 45days

ICM102732 Autosomaldominantleukodystrophyadultonset.GeneLMNB1.Deletions-duplications(MLPA). 30days

ICM100956 Autosomaldominantosteopetrosistype1.GeneLRP5 45days

ICM100957 Autosomaldominantosteopetrosistype2GeneCLCN7 45days

ICM101151 Autosomaldominantspasticparaplegiatype10.GeneKIF5A 45days



ICMcode Pathologydefinition TATICM101153 Autosomaldominantspasticparaplegiatype13GeneHSPD1 45days

ICM101154 Autosomaldominantspasticparaplegiatype17.GeneBSCL2 45days

ICM101156 Autosomaldominantspasticparaplegiatype33.GeneZFYVE27 45days

ICM101157 Autosomaldominantspasticparaplegiatype3A.GeneATL1 45days

ICM101158 Autosomaldominantspasticparaplegiatype4GeneSPAST 45days

ICM101159 Autosomaldominantspasticparaplegiatype42.GeneSLC33A1 45days

ICM101161 Autosomaldominantspasticparaplegiatype8GeneKIAA0196 45days

ICM101361 AutosomaldominantsyndromeHyperIgE.STAT3gene 45days

ICM100736 Autosomalrecessivecongenitalichthyosis10.GenePNPLA1 45days

ICM100737 Autosomalrecessivecongenitalichthyosistype5.GeneCYP4F22 45days

ICM100738 Autosomalrecessivecongenitalichthyosistype6.GeneNIPAL4 45days

ICM100224 Autosomalrecessivementalretardation7.GeneTUSC3 45days

ICM100958 Autosomalrecessiveosteopetrosistype1.GeneTCIRG1 45days

ICM100959 Autosomalrecessiveosteopetrosistype2GeneTNFSF11 45days

ICM100960 Autosomalrecessiveosteopetrosistype3.GeneCA2 45days

ICM100961 Autosomalrecessiveosteopetrosistype4GeneCLCN7 45days

ICM100962 Autosomalrecessiveosteopetrosistype5.GeneOSTM1 45days

ICM100963 Autosomalrecessiveosteopetrosistype6.GenePLEKHM1 45days

ICM100964 Autosomalrecessiveosteopetrosistype7.GeneTNFRSF11A 45days

ICM100568 Autosomalrecessivepolycystickidneydisease.GenePKHD1 45days

ICM100824 Autosomalrecessiveprimarymicrocephaly5.GeneASPM 45days

ICM100822 Autosomalrecessiveprimarymicrocephalytype3.GeneCDK5RAP2 45days

ICM100823 Autosomalrecessiveprimarymicrocephalytype4GeneCASC5 45days

ICM100826 Autosomalrecessiveprimarymicrocephalytype7.GeneSTIL 45days

ICM100828 Autosomalrecessiveprimarymicrocephalytype9.GeneCEP152 45days

ICM100941 Autosomalrecessiveprogressiveexternalophthalmoplegia.GenePOLG 45days

ICM101150 Autosomalrecessivespasticparaplegiatype5A.CYP7B1gene 45days

ICM100107 AutosomalrecessivespinocerebellarataxiarelatedtoSYNE1.GeneSYNE1 45days

ICM101690 Autosomalrecessivespinocerebellarataxiatype9.GeneADCK3(CABC1).CompletesequencingSanger. 45days

ICM101447 AutosomalrecessivesyndromeRobinow.GeneROR2 45days

ICM101972 Axenfeld-Riegersyndrome.GeneFOXC1.CompletesequencingSanger. 45days

ICM101255 Baller-Geroldsyndrome.GeneRECQL4 45days

ICM101257 Bardet-Biedlsyndrometype1.GeneBBS1 45days


ICM101259 Bardet-Biedlsyndrometype11.GeneTRIM32 45days


ICM101261 Bardet-Biedlsyndrometype13.GeneMKS1 45days

ICM101262 Bardet-Biedlsyndrometype14.GeneCEP290 45days

ICM101263 Bardet-Biedlsyndrometype15.GeneWDPCP 45days

ICM101264 Bardet-Biedlsyndrometype16.GeneSDCCAG8 45days

ICM101265 Bardet-Biedlsyndrometype17.GeneLZTFL1 45days


ICM101267 Bardet-Biedlsyndrometype3GeneARL6 45days



ICM101270 Bardet-Biedlsyndrometype6.GeneMKKS 45days




ICMcode Pathologydefinition TATICM101272 Bardet-Biedlsyndrometype8.GeneTTC8 45days


ICM101759 Bardet-Biedltype5syndrome.GeneBBS5.CompletesequencingSanger. 45days

ICM102472 Barthsyndrome.TAZgene.CompletesequencingSanger. 45days

ICM101274 Barttersyndrometype1.SLC12A1Gene 45days

ICM101275 Barttersyndrometype2.GeneKCNJ1 45days

ICM101276 Barttersyndrometype3.GeneCLCNKB 45days

ICM102650 Barttersyndrometype3.GeneCLCNKB.Deletions-duplications(MLPA). 30days

ICM101278 Barttersyndrometype4A.GeneBSND 45days

ICM100442 Beckermusculardystrophy.DMDgene 45days

ICM101797 Beckwith-Wiedemannsyndrome.GeneCDKN1C.CompletesequencingSanger. 45days

ICM102221 BenignfamiliarKorea.GeneNKX2-1(TITF1).CompletesequencingSanger. 45days

ICM102748 BenignfamiliarKorea.NKX2-1gene.Deletions-duplications(MLPA). 30days

ICM102102 Benignneonatalepilepsytype2.geneKCNQ3.CompletesequencingSanger. 45days

ICM100191 Benignrecurrentintrahepaticcholestasistype2.GeneABCB11 45days

ICM102026 Bernard-Soulersyndrome.GeneGP1BA.CompletesequencingSanger. 45days

ICM102027 Bernard-Soulersyndrome.GeneGP1BB.CompletesequencingSanger. 45days

ICM102028 Bernard-Soulersyndrome.GeneGP9.CompletesequencingSanger. 45days

ICM101279 Bernard-SouliersyndromeassociatedGP1BA.GeneGP1BA 45days

ICM102040 Betathalassemia.HBBgene.P.Glu6Valmutation. 15days

ICM100090 Betathalassemia.Sicklecellanemia.HBBgene 45days

ICM100292 Beta-ketothiolasedeficit.GeneACAT1 45days

ICM100138 Beta-Thalassemia.HBBgene 45days

ICM100434 Bietticorneoretinalcrystallinedystrophy.GeneCYP4V2 45days

ICM100294 Biotinidasedeficiency.BTDgene 45days

ICM102099 Birk-Barelsyndrome.GeneKCNK9.CompletesequencingSanger. 45days

ICM102688 Birt-Hogg-Dubésyndrome.FLCNgene.Deletions-duplications(MLPA). 30days

ICM101281 Birt-Hogg-Dubé.GeneFLCN 45days

ICM100234 BirthdefectsoftypeIIglycosylation.GeneALG2 45days

ICM101764 Björnstadtsyndrome.GeneBCS1L.CompletesequencingSanger. 45days

ICM101282 Blepharophimosissyndrome.GeneFOXL2 45days

ICM102693 Blepharophimosis,ptosisandreverseepicantotypes1and2.GeneFOXL2.Deletions-duplications(MLPA). 30days

ICM101283 Bloomsyndrome.BLMgene 45days

ICM102275 Borjeson-Forssman-Lehmannsyndrome.GenePHF6.CompletesequencingSanger. 45days

ICM102354 Bothniaretinaldystrophy.GeneRLBP1.CompletesequencingSanger. 45days

ICM102074 BrachydactylytypeA1.IHHgene.CompletesequencingSanger. 45days

ICM101768 BrachydactylytypeA2.BMP2gene.CompletesequencingSanger. 45days

ICM101770 BrachydactylytypeA2.GeneBMPR1B.CompletesequencingSanger. 45days

ICM102359 BrachydactylytypeB.GeneROR2.CompletesequencingSanger. 45days

ICM102332 BrachydactylytypeE2.GenePTHLH.CompletesequencingSanger. 45days

ICM101231 Branchio-eye-syndromefacial.GeneTFAP2A 45days

ICM101233 Branchio-oticsyndrometype1.GeneEYA1 45days

ICM101234 Branchio-oticsyndrometype3.GeneSIX1 45days

ICM101924 Branchio-oto-renalsyndrome-BORsyndrome.GeneEYA1.CompletesequencingSanger. 45days

ICM102415 Branchio-oto-renalsyndrome-BORsyndrome.GeneSIX5.CompletesequencingSanger. 45days

ICM100861 Brodymyopathy.GeneATP2A1 45days

ICM102794 Brugadasyndrometype1.SCN5Agene.Deletions-duplications(MLPA). 30days



ICMcode Pathologydefinition TATICM102126 Buschke-Ollendorffsyndrome.LEMD3gene(MAN1).CompletesequencingSanger. 45days

ICM101762 Butyryl-cholinesterasedeficiency.GeneBCHE.CompletesequencingSanger. 45days

ICM102974CADASIL:CerebralarteriopathywithsubcorticalinfarctsandADleukoencephalopathy.GenNOTCH3.Exons2to6and11

30days

ICM102227CADASIL:CerebralarteriopathywithsubcorticalinfarctsandADleukoencephalopathy.GeneNOTCH3.CompletesequencingSanger.

45days

ICM102226CADASIL:CerebralarteriopathywithsubcorticalinfarctsandADleukoencephalopathy.GeneNOTCH3.Exons3and4.

45days

ICM100503 Caffeydisease.COL1A1gene 45days

ICM102065 CAHdeficit3-beta-hydroxysteroiddehydrogenase.GeneHSD3B2.CompletesequencingSanger 45days

ICM100380 Campomelicdysplasia.SOX9gene 45days

ICM102813 Campomelicdysplasia.SOX9gene.Deletions-duplications(MLPA). 30days

ICM100504 Camurati-Engelmanndisease.GeneTGFB1 45days

ICM102482 Camurati-Engelmanndisease.GeneTGFB1.CompletesequencingSanger. 45days

ICM100505 Canavandisease.ASPAgene 45days

ICM101730 Canavandisease.ASPAgene.CompletesequencingSanger. 45days

ICM102630 Canavandisease.ASPAgene.Deletions-duplications(MLPA). 30days

ICM102978 Cáncerdemama/ovario.GenRAD51D 45days

ICM101769 CancerFamilynonpolyposiscolon.GeneBMPR1A.CompletesequencingSanger. 45days

ICM102742 CancerFamilynonpolyposiscolon.MSH6gene.Deletions-duplications(MLPA). 30days

ICM102876 CandidaDNAdetection. 10days

ICM100862 Capmyopathytype1.GeneACTA1 45days

ICM100863 Capmyopathytype2.GeneTPM2 45days

ICM100864 Capmyopathytype3.GeneTPM3 45days

ICM100295 CarbamoylsynthetasedeficiencytypeIGeneCPS1 45days

ICM100500 Cardiac/CCDConductivedisease.SCN5Agene 45days

ICM102186 Cardiacseptal.GeneMYH6.CompletesequencingSanger. 45days

ICM101772 Cardio-facio-cutaneoussyndrome.BRAFgene.CompletesequencingSanger. 45days

ICM101423 Cardiofaciocutaneoussyndrome.MAP2K1gene 45days

ICM100195 Carneycomplex.GenePRKAR1A 45days

ICM102419 Carnitinedeficiency.SLC22A5gene.CompletesequencingSanger. 45days

ICM102804 Carnitinedeficiency.SLC22A5gene.Deletions-duplications(MLPA). 30days

ICM100296 CarnitinepalmitoyltransferasedeficiencytypeI.GeneCPT1A 45days

ICM100297 CarnitinepalmitoyltransferasedeficiencytypeII.GeneCPT2 45days

ICM101785 Catecholaminergicpolymorphicventriculartachycardia.GeneCASQ2.CompletesequencingSanger. 45days

ICM102942 Celiacdisease,susceptibility 15days

ICM100563 Centralcoredisease.RYR1gene 45days

ICM100697 CerebellarhypoplasiaassociatedwithVLDRL.GeneVLDLR 45days

ICM100095 CerebralamyloidangiopathyrelatedtoAPP.APPgene 45days

ICM100096 CerebralamyloidangiopathyrelatedtoCST3.GeneCST3 45days

ICM100097 CerebralamyloidangiopathyrelatedtoITM2B.GeneITM2B 45days

ICM100101 Cerebralautosomaldominantarteriopathy;subcorticalinfarctsandleukoencephalopathy.GeneNOTCH3 45days

ICM100103 Cerebralautosomalrecessivearteriopathy;subcorticalinfarctsandleukoencephalopathy.GeneHTRA1 45days

ICM101321 Cerebraldysgenesissyndrome-neuropathy-ichthyosis-palmoplantarkeratoderma.SNAP29gene 45days

ICM100499 Cerebralsmallvesseldiseasewithbleeding.COL4A1gene 45days

ICM101592 Cerebrotendinousxanthomatosis.CYP27A1gene 45days

ICM100801 Ceroidlipofuscinosisneuronal-4,Parrytype.GeneDNAJC5 45days

ICM102307 Ceroidneuronalceroid.PPT1gene.CompletesequencingSanger. 45days

ICM100968 CFTR-relatedhereditarypancreatitis.CFTRgene 45days



ICMcode Pathologydefinition TATICM101604 CGHArray180K 20days

ICM102944 CGHarray180K(Enrichedautism) 20days

ICM101605 CGHArray400Ksystemicpathologies 20days

ICM101603 CGHArray60K 20days

ICM101606 CGHArray750Ksystemicpathologies 20days

ICM102972 CGHArrayHDsystemicpathologies 30days

ICM101607 CGHArrayprenatal 10days

ICM101284 Charsyndrome.GeneTFAP2B 45days

ICM101839 Charcot-Marie-Toothdiseasetype1A.GeneCOX10.CompletesequencingSanger. 45days

ICM100143 Charcot-Marie-Toothdiseasetype1A.PMP22gene 45days

ICM102772 Charcot-Marie-Toothdiseasetype1A.PMP22gene.Deletions-duplications(MLPA). 30days

ICM100145 Charcot-Marie-Toothdiseasetype1C.GeneLITAF 45days

ICM100146 Charcot-Marie-Toothdiseasetype1D.GeneEGR2 45days

ICM100147 Charcot-Marie-Toothdiseasetype1E.PMP22gene 45days

ICM100148 Charcot-Marie-Toothdiseasetype1F.GeneNEFL 45days

ICM100150 Charcot-Marie-Toothdiseasetype2A1.GeneKIF1B 45days

ICM100151 Charcot-Marie-Toothdiseasetype2A2.GeneMFN2 45days

ICM100152 Charcot-Marie-Toothdiseasetype2B.GeneRAB7A 45days

ICM100153 Charcot-Marie-Toothdiseasetype2B1.LMNAgene 45days

ICM102731 Charcot-Marie-Toothdiseasetype2B1.LMNAgene.Deletions-duplications(MLPA). 30days

ICM100154 Charcot-Marie-Toothdiseasetype2B2.MED25gene 45days

ICM100155 Charcot-Marie-Toothdiseasetype2C.TRPV4gene 45days

ICM100157 Charcot-Marie-Toothdiseasetype2E.GeneNEFL 45days

ICM100158 Charcot-Marie-Toothdiseasetype2F.GeneHSPB1 45days

ICM100159 Charcot-Marie-Toothdiseasetype2Hand2K.GeneGDAP1 45days

ICM100160 Charcot-Marie-Toothdiseasetype2I.MPZgene 45days

ICM100161 Charcot-Marie-Toothdiseasetype2J.MPZgene 45days

ICM102003 Charcot-Marie-Toothdiseasetype2K/4A.GeneGDAP1.CompletesequencingSanger. 45days

ICM102697 Charcot-Marie-Toothdiseasetype2K/4A.GeneGDAP1.Deletions-duplications(MLPA). 30days

ICM100162 Charcot-Marie-Toothdiseasetype2L.GeneHSPB8 45days

ICM100163 Charcot-Marie-Toothdiseasetype2N.AARSgene 45days

ICM100164 Charcot-Marie-Toothdiseasetype2O.GeneDync1h1 45days

ICM100165 Charcot-Marie-Toothdiseasetype2P.GeneLRSAM1 45days

ICM100166 Charcot-Marie-Toothdiseasetype2Q.GeneDHTKD1 45days

ICM100168 Charcot-Marie-Toothdiseasetype4A.GeneGDAP1 45days

ICM100169 Charcot-Marie-Toothdiseasetype4B1.GeneMTMR2 45days

ICM100170 Charcot-Marie-Toothdiseasetype4B2.GeneSBF2 45days

ICM100171 Charcot-Marie-Toothdiseasetype4B3.GeneSBF1 45days

ICM100172 Charcot-Marie-Toothdiseasetype4C.GeneSH3TC2 45days

ICM102799 Charcot-Marie-Toothdiseasetype4C.GeneSH3TC2.Deletions-duplications(MLPA). 30days

ICM100173 Charcot-Marie-Toothdiseasetype4D.GeneNDRG1 45days

ICM100174 Charcot-Marie-Toothdiseasetype4E.GeneEGR2 45days

ICM100175 Charcot-Marie-Toothdiseasetype4F.PRXgene 45days

ICM100176 Charcot-Marie-Toothdiseasetype4H.GeneFGD4 45days

ICM100177 Charcot-Marie-Toothdiseasetype4J.GeneFIG4 45days

ICM100140 Charcot-Marie-ToothdiseaseX-linkedtype4.GeneAIFM1 45days

ICM100178 Charcot-Marie-Toothdisease,dominantintermediateB.GeneDNM2 45days



ICMcode Pathologydefinition TATICM100179 Charcot-Marie-Toothdisease,dominantintermediateC.GeneYARS 45days

ICM100184 Charcot-Marie-Toothdisease,dominantintermediateD.GeneMPZ 45days

ICM100180 Charcot-Marie-Toothdisease,dominantintermediateE.GeneINF2 45days

ICM100181 Charcot-Marie-Toothdisease,dominantintermediateGeneF.GNB4 45days

ICM100139 Charcot-Marie-Toothtype1X-linked.GeneGJB1 45days

ICM100144 Charcot-Marie-Toothtype1B.MPZgene 45days

ICM100149 Charcot-Marie-Toothtype2.GeneBSCL2 45days

ICM100156 Charcot-Marie-Toothtype2D.GARSgene 45days

ICM100141 Charcot-Marie-Toothtype5.X-linked.GenePRPS1 45days

ICM100142 Charcot-Marie-Toothtype6.X-linked.GenePDK3 45days

ICM102011 Charcot-Marie-ToothX-linked.GeneGJB1(Cx32).CompletesequencingSanger. 45days

ICM102699 Charcot-Marie-ToothX-linked.GeneGJB1.Deletions-duplications(MLPA). 30days

ICM100183 Charcot-Marie-Tooth,intermediaterecessiveB.GeneKARS. 45days

ICM100182 Charcot-Marie-Tooth,intermediaterecessive,A.GeneGDAP1 45days

ICM102646 Chargesyndrome.CHD7gene.Deletions-duplications(MLPA). 30days

ICM101285 CHARGEsyndrome.GeneCHD7 45days

ICM101289 Chediak-Higashisyndrome.GeneLYST 45days

ICM101210 Cherubism.GeneSH3BP2 45days

ICM101728 Childearlyepilepticencephalopathy.ARXgene.CompletesequencingSanger. 45days

ICM102629 Childearlyepilepticencephalopathy.ARXgene.Deletions-duplications(MLPA). 30days

ICM100118 Childhood-onsetspinocerebellarataxia.GeneC10orf2 45days

ICM102331 ChondrodysplasiaBlomstrandtype.PTH1Rgene(PTHR1).CompletesequencingSanger. 45days

ICM100205 ChondrodysplasiapunctatatypeRhizomelic3.GeneAGPS 45days

ICM101892 ChondrodysplasiapunctataX-linkeddominant.EBPgene.CompletesequencingSanger. 45days

ICM101727 ChondrodysplasiapunctataX-linkedrecessive.RHEAgene.CompletesequencingSanger. 45days

ICM100199 ChondrodysplasiapunctataX-linkedtype1.GeneRHEA 45days

ICM100200 ChondrodysplasiapunctataX-linkedtype2.GeneEBP 45days

ICM100202 ChondrodysplasiapunctataX-linked.GenesASS,EBP 45days

ICM100209 Choroideremia.CHMgene 45days

ICM102648 Choroideremia.CHMgene.Deletions-duplications(MLPA). 30days

ICM100210 Choroidopathyvitreoretinal.GeneBEST1 45days

ICM101857 Chronicgranulomatousdisease.GeneCYBA.CompletesequencingSanger. 45days

ICM101858 Chronicgranulomatousdisease.GeneCYBB.CompletesequencingSanger. 45days

ICM102194 Chronicgranulomatousdisease.GeneNCF1.CompletesequencingSanger. 45days

ICM102195 Chronicgranulomatousdisease.GeneNCF2.CompletesequencingSanger. 45days

ICM102295 ChronicprogressiveexternalophthalmoplegiaADtype4.GenePOLG2.CompletesequencingSanger. 45days

ICM102463 CIDsyndromicorwithassociatedsymptoms.GeneSTAT5B.CompletesequencingSanger. 45days

ICM100299 Citrinedeficit.GeneSLC25A13 45days

ICM102420 Citrullinemiatype2.GeneSLC25A13.CompletesequencingSanger. 45days

ICM100187 CitrullinemiatypeI.GeneASS1 45days

ICM100189 Citrullinemia.GenesASS1,SLC25A13 45days

ICM102715 Cleftlipwithorwithoutcleftpalate.IRF6gene.Deletions-duplications(MLPA). 30days

ICM100381 Cleidocranealdysplasia.GeneRUNX2 45days

ICM102374 Cleidocranealdysplasia.GeneRUNX2.CompletesequencingSanger. 45days

ICM101632 ClonalityB(IgHrearrangements) 10days

ICM101633 ClonalityT(TCRrearrangements) 10days

ICM102425 Cloretocongenitaldiarrhea.SLC26A3gene.CompletesequencingSanger. 45days



ICMcode Pathologydefinition TATICM101290 Cloustonsyndrome.GeneGJB6 45days

ICM101291 COACHsyndrome.TMEM67gene 45days

ICM101918 Cockaynesyndrome.ERCC6gene(CBS).CompletesequencingSanger. 45days

ICM101919 Cockaynesyndrome.GeneERCC8(CKN1,CSA).CompletesequencingSanger. 45days

ICM100300 CoenzymeQ10deficiencyrelatedtoAPTX.GeneAPTX 45days

ICM100331 CoenzymeQ10primarydeficitoftype1.GeneCOQ2 45days

ICM100332 CoenzymeQ10primarydeficitoftype2.GenePDSS1 45days

ICM100333 CoenzymeQ10primarydeficitoftype3.GenePDSS2 45days

ICM100334 CoenzymeQ10primarydeficitoftype4.GeneADCK3 45days

ICM102785 CoffinLowrysyndrome.GeneRPS6KA3.Deletions-duplications(MLPA). 30days

ICM101294 Coffin-Lowrysyndrome.GeneRPS6KA3 45days

ICM102628 Coffin-Sirissyndrome.GeneARID1b.Deletions-duplications(MLPA). 30days

ICM101295 Cohensyndrome.GeneVPS13B 45days

ICM102761 Colobomaofopticnerve.GenePAX6.Deletions-duplications(MLPA). 30days

ICM102182 Coloncancer.Adenomatouspolyposiscolorectal.MUTYHgene(MYH).CompletesequencingSanger. 45days

ICM102181 Coloncancer.Adenomatouspolyposiscolorectal.MUTYHgene(MYH).MutationsY165C;G382D. 20days

ICM102624 Coloncancer.Familialadenomatouspolyposis.APCgene.Deletions-duplications(MLPA). 30days

ICM102854 Coloncancer.GenesMLH1,MSH2,EPCAM.Deletions-duplications(MLPA). 30days

ICM102853 Coloncancer.MLH1,MLH3,MSH2,MSH3,MSH6,PMS2,MS-MGMTbyMLPA.(MLPA). 30days

ICM102239 Coloncancer.NRASgene.CompletesequencingSanger. 45days

ICM101087 Colorectalcancer.Molecularcharacterization.LIQUIDBIOPSY 12days

ICM100260 Combinedoxidativephosphorylationdeficiencytype1GeneGFM1 45days

ICM100261 Combinedoxidativephosphorylationdeficiencytype14.GeneFARS2 45days

ICM100262 Combinedoxidativephosphorylationdeficiencytype15.GeneMTFMT 45days

ICM100263 Combinedoxidativephosphorylationdeficiencytype2.GeneMRPS16 45days

ICM100264 Combinedoxidativephosphorylationdeficiencytype3.GeneTSFM 45days

ICM100265 Combinedoxidativephosphorylationdeficiencytype4.GeneTUFM 45days

ICM100266 Combinedoxidativephosphorylationdeficiencytype5.GeneMRPS22 45days

ICM100267 Combinedoxidativephosphorylationdeficiencytype7.GeneC12orf65 45days

ICM100268 Combinedoxidativephosphorylationdeficiencytype8.GeneAARS2 45days

ICM100254 Combinedpituitaryhormonedeficiencytype1genePOU1F1 45days

ICM100255 Combinedpituitaryhormonedeficiencytype2.GenePROP1 45days

ICM100256 Combinedpituitaryhormonedeficiencytype3.GeneLHX3 45days

ICM100257 Combinedpituitaryhormonedeficiencytype4.GeneLHX4 45days

ICM100258 Combinedpituitaryhormonedeficiencytype5.GeneHESX1 45days

ICM100259 Combinedpituitaryhormonedeficiencytype6.GeneOTX2 45days

ICM100765 CommonVariableImmunodeficiency1.GeneICOS 45days

ICM100770 CommonVariableImmunodeficiency4.GeneTNFRSF13C 45days

ICM100778 CommonVariableImmunodeficiency8.GeneLRBA 45days

ICM100766 Commonvariableimmunodeficiencytype2.GeneTNFRSF13B 45days

ICM100773 Commonvariableimmunodeficiencytype5.GeneMS4A1 45days

ICM100774 Commonvariableimmunodeficiencytype6.GeneCD81 45days

ICM100777 Commonvariableimmunodeficiencytype7.GeneCR2 45days

ICM100769 Commonvariableimmunodeficiencyvirustype3.CD19Gene 45days

ICM101696 Conedystrophy.GeneAIPL1.CompletesequencingSanger. 45days

ICM100137 Congenitalabsenceofthevasdeferens.CFTRgene 45days

ICM101356 CongenitaladrenalhypoplasiaX-linked.GeneCD40LG 45days



ICMcode Pathologydefinition TATICM100712 CongenitaladrenalhypoplasiaX-linked.GeneNR0B1 45days

ICM102751 Congenitaladrenalhypoplasia.GeneNR0B1.Deletions-duplications(MLPA). 30days

ICM102240 Congenitaladrenalhypoplasia.NROB1gene(DAX1).CompletesequencingSanger. 45days

ICM101945 Congenitalafibrinogenaemia.FGAgene.CompletesequencingSanger. 45days

ICM101946 Congenitalafibrinogenaemia.FGBgene.CompletesequencingSanger. 45days

ICM102423Congenitalcataract-HypertrophicCardiomyopathy-mitochondrialmyopathy.SLC25A4gene.CompletesequencingSanger.

45days

ICM102006 Congenitalcentralhypoventilationsyndrome.GDNFgene.CompletesequencingSanger. 45days

ICM102277 Congenitalcentralhypoventilationsyndrome.GenePHOX2B.CompletesequencingSanger. 45days

ICM102765 Congenitalcentralhypoventilationsyndrome.GenePHOX2B.Deletions-duplications(MLPA). 30days

ICM102276 Congenitalcentralhypoventilationsyndrome.GenePHOX2B.Poly-Alaexpansion. 30days

ICM100221 CongenitaldefectsofglycosylationassociatedALG13.GeneALG13 45days

ICM100223 congenitaldefectsofglycosylationassociatedPGM1.PGM1gene 45days

ICM100243 CongenitaldefectsofglycosylationtypeIIi.GeneCOG5 45days

ICM100225 CongenitaldefectsofglycosylationtypeIr.GeneDDOST 45days

ICM102396CongenitaldeficiencyofplasminoGeneactivatorinhibitortype1GeneSERPINE1(PAI-1).4G/5Gpolymorphism.

45days

ICM100232 CongenitaldisorderofglycosylationIg.GeneALG12 45days

ICM102163 Congenitaldisorderofglycosylationtype1b.MPIgene.CompletesequencingSanger. 45days

ICM101704 Congenitaldisorderofglycosylationtype1c.GeneALG6.CompletesequencingSanger. 45days

ICM100226 CongenitaldisorderofglycosylationtypeIa.GenePMM2 45days

ICM101551 CongenitaldisorderofglycosylationtypeIa.GenePMM2 45days

ICM100227 CongenitaldisorderofglycosylationtypeIb.GeneMPI 45days

ICM100228 CongenitaldisorderofglycosylationtypeIc.GeneALG6 45days

ICM100229 CongenitaldisorderofglycosylationtypeId.GeneALG3 45days

ICM100230 CongenitaldisorderofglycosylationtypeIe.DPM1gene 45days

ICM100231 Congenitaldisorderofglycosylationtypeif.GeneMPDU1 45days

ICM100233 CongenitaldisorderofglycosylationtypeIh.GeneAlg8 45days

ICM100235 CongenitaldisorderofglycosylationtypeIIa.GeneMGAT2 45days

ICM100236 CongenitaldisorderofglycosylationtypeIIb.GeneMOGS 45days

ICM100237 CongenitaldisorderofglycosylationtypeIIc.GeneSLC35C1 45days

ICM100238 CongenitaldisorderofglycosylationtypeIId.GeneB4GALT1 45days

ICM100239 CongenitaldisorderofglycosylationtypeIIe.GeneCOG7 45days

ICM100240 CongenitaldisorderofglycosylationtypeIif.SLC35A1gene 45days

ICM100241 CongenitaldisorderofglycosylationtypeIIg.GeneCOG1 45days

ICM100242 CongenitaldisorderofglycosylationtypeIIh.GeneCOG8 45days

ICM100244 CongenitaldisorderofglycosylationtypeIIj.GeneCOG4 45days

ICM100246 CongenitaldisorderofglycosylationtypeIIL.GeneCOG6 45days

ICM100247 CongenitaldisorderofglycosylationtypeIj.GeneDPAGT1 45days

ICM100248 CongenitaldisorderofglycosylationtypeIL.GeneALG9 45days

ICM100245 CongenitaldisorderofglycosylationtypeIlk.GeneTMEM165 45days

ICM100249 CongenitaldisorderofglycosylationtypeIm.GeneDOLK 45days

ICM100251 CongenitaldisorderofglycosylationtypeIo.GeneDPM3 45days

ICM100252 CongenitaldisorderofglycosylationtypeIp.GeneALG11 45days

ICM100253 CongenitaldisorderofglycosylationtypeIq.GeneSRD5A3 45days

ICM100250 CongenitaldisordersofglycosylationtypeIn.GeneRFT1 45days

ICM102498 Congenitaldistalarthrogryposistype2B.GeneTNNI2.CompletesequencingSanger. 45days

ICM102502 Congenitaldistalarthrogryposistype2B.GeneTNNT3.CompletesequencingSanger. 45days



ICMcode Pathologydefinition TATICM100132 Congenitaldistalspinalmuscularatrophy.TRPV4gene 45days

ICM101877 CongenitaldyskeratosisXL-congenitaldyskeratosis.GeneDKC1.CompletesequencingSanger. 45days

ICM102491 Congenitaldyskeratosis.GeneTINF2.CompletesequencingSanger. 45days

ICM101192 Congenitalerythropoieticporphyria.UROSgene 45days

ICM100340 CongenitalfiberdisproportionrelatedACTA1 45days

ICM100341 CongenitalfiberdisproportionrelatedMYH7 45days

ICM100342 CongenitalfiberdisproportionrelatedRYR1 45days

ICM100343 CongenitalfiberdisproportionrelatedSEPN1 45days

ICM100344 CongenitalfiberdisproportionrelatedTPM2 45days

ICM100345 CongenitalfiberdisproportionrelatedTPM3 45days

ICM102530 Congenitalfibrosisofextraocularmuscles.GeneTUBB2B.CompletesequencingSanger. 45days

ICM100636 CongenitalfibrosisoftheextraocularmusclesrelatedtoFHOX2A.GenePHOX2A 45days

ICM100635 CongenitalfibrosisoftheextraocularmusclesrelatedtoKIF21A.GeneKIF21A 45days

ICM100637 CongenitalfibrosisoftheextraocularmusclesrelatedtoTUBB3.GeneTUBB3 45days

ICM100797 Congenitalgeneralizedlipodystrophytype1.GeneAGPAT2 45days

ICM100798 Congenitalgeneralizedlipodystrophytype2GeneBSCL2 45days

ICM100799 Congenitalgeneralizedlipodystrophytype3.GeneCAV1 45days

ICM100800 Congenitalgeneralizedlipodystrophytype4.GenePTRF 45days

ICM101862 Congenitalglaucoma.CYP1B1gene.CompletesequencingSanger. 45days

ICM102665 Congenitalglaucoma.CYP1B1gene.Deletions-duplications(MLPA). 30days

ICM102190 Congenitalglaucoma.GeneMYOC.CompletesequencingSanger. 45days

ICM102249 Congenitalglaucoma.OPTNgene.CompletesequencingSanger. 45days

ICM101925 Congenitalhearinglosstype10,AD.GeneEYA4.CompletesequencingSanger. 45days

ICM102543 Congenitalhearinglosstype18A,AR.GeneUSH1C.CompletesequencingSanger. 45days

ICM102413 Congenitalhearinglosstype23,AD.GeneSIX1.CompletesequencingSanger. 45days

ICM102493 Congenitalhearinglosstype8/10,AR.GeneTMPRSS3.CompletesequencingSanger. 45days

ICM101829 Congenitalhearinglosstype9AD.COCHgene.CompletesequencingSanger. 45days

ICM102426 Congenitalhearinglosswithdilatedvestibularaqueduct,AR.SLC26A4gene.CompletesequencingSanger. 45days

ICM102012 Congenitalhearingloss.GeneGJB2(Cx26).35delGmutation. 15days

ICM102013 Congenitalhearingloss.GeneGJB2(Cx26).CompletesequencingSanger. 45days

ICM102700 Congenitalhearingloss.GeneGJB6.Deletions-duplications(MLPA). 30days

ICM102850 congenitalhearingloss.GenesGJB2,GJB6,GJB3,POU3F4,WFS1.Deletions-duplications(MLPA). 30days

ICM102014 Congenitalhearingloss.GJB3gene(CX31).CompletesequencingSanger. 45days

ICM102015 Congenitalhearingloss.GJB6gene(Cx30).CompletesequencingSanger. 45days

ICM102090Congenitalhypogonadotropichypogonadismwithanosmia-Kallmansyndrome.GeneKAL1.CompletesequencingSanger

45days

ICM102516 Congenitalhypothyroidism.GeneTRHR.CompletesequencingSanger. 45days

ICM102488 CongenitalichthyosisAR.GeneTGM1.CompletesequencingSanger. 45days

ICM101705 Congenitalichthyosis.GeneALOX12B.CompletesequencingSanger. 45days

ICM101706 Congenitalichthyosis.GeneALOXE3.CompletesequencingSanger. 45days

ICM101775 CongenitallipodystrophyBerardinelli-Seiptype2.GeneBSCL2.CompletesequencingSanger. 45days

ICM101691 Congenitallipodystrophytype1.GeneAGPAT2.CompletesequencingSanger. 45days

ICM101520 CongenitalmiasthenicsyndromeassociatedwithAGRN.GeneAGRN 45days

ICM101521 CongenitalmiasthenicsyndromeassociatedwithCHAT.GeneCHAT 45days

ICM101522 CongenitalmiasthenicsyndromeassociatedwithCHRNA1.GeneCHRNA1 45days

ICM101523 CongenitalmiasthenicsyndromeassociatedwithCHRNB1.GeneCHRNB1 45days

ICM101524 CongenitalmiasthenicsyndromeassociatedwithCHRND.GeneCHRND 45days

ICM101525 CongenitalmiasthenicsyndromeassociatedwithCHRNE.GeneCHRNE 45days



ICMcode Pathologydefinition TATICM101526 CongenitalmiasthenicsyndromeassociatedwithCOLQ.GeneColQ 45days

ICM101527 CongenitalmiasthenicsyndromeassociatedwithDOK7.GeneDOK7 45days

ICM101528 CongenitalmiasthenicsyndromeassociatedwithGFPT1.GeneGFPT1 45days

ICM101529 CongenitalmiasthenicsyndromeassociatedwithMUSK.GeneMUSK 45days

ICM101530 CongenitalmiasthenicsyndromeassociatedwithRAPSN.GeneRAPSN 45days

ICM101531 CongenitalmiasthenicsyndromeassociatedwithSCN4A.GeneSCN4A 45days

ICM100439 CongenitalmusculardystrophyrelatedtoLAMA2 45days

ICM100440 CongenitalmusculardystrophyrelatedtoSEPN1 45days

ICM102728 Congenitalmusculardystrophytype1A-deficiencyinlaminin/merosin.GeneLAMA2.(MLPA). 30days

ICM102121Congenitalmusculardystrophytype1A-deficiencyinlaminin/merosin.GeneLAMA2.CompletesequencingSanger.

45days

ICM101963 Congenitalmusculardystrophytype1C.GeneFKRP.CompletesequencingSanger. 45days

ICM102298 CongenitalMuscularDystrophy:Walker-Warburgsyndrome.GenePOMT1.CompletesequencingSanger. 45days

ICM102299 CongenitalMuscularDystrophy:Walker-Warburgsyndrome.GenePOMT2.CompletesequencingSanger. 45days

ICM101806 Congenitalmyastheniasyndrome.CHATgene.CompletesequencingSanger. 45days

ICM101811 Congenitalmyastheniasyndrome.GeneCHRND.CompletesequencingSanger. 45days

ICM101837 Congenitalmyastheniasyndrome.GeneCOLQ.CompletesequencingSanger. 45days

ICM101883 Congenitalmyastheniasyndrome.GeneDOK7.CompletesequencingSanger. 45days

ICM102341 Congenitalmyastheniasyndrome.GeneRAPSN.CompletesequencingSanger. 45days

ICM101519 Congenitalmyasthenicsyndrometype2withtubularaggregates.GeneDPAGT1 45days

ICM102649 Congenitalmyotonia.GeneCLCN1.Deletions-duplications(MLPA). 30days

ICM102268 Congenitalstationarynightblindnesstype2,AD.GenePDE6B.CompletesequencingSanger. 45days

ICM100433 Congenitalstromalcornealdystrophy.DCNgene 45days

ICM102666 Congenitalsuprarrenalhyperplasiadeficit21-hydroxylase.CYP21A2gene.(MLPA). 30days

ICM102664 Congenitalsuprarrenalhyperplasiadeficit-alpha-hydroxylase17.CYP17A1gene.(MLPA). 30days

ICM101861 Congenitalsuprarrenalhyperplasia,deficit-alpha-hydroxylase17.CYP17A1gene.CompletesequencingSanger. 45days

ICM100206 Coproporphyriahereditary.GeneCPOX 45days

ICM102484 Cornealdystrophy,microcystic.GeneTGFBI.CompletesequencingSanger. 45days

ICM101298 CorneliadeLangesyndrometype1GeneNIPBL 45days

ICM101299 CorneliadeLangeSyndrometype2.GeneSMC1A 45days

ICM101300 CorneliadeLangesyndrometype3GeneSMC3 45days

ICM101301 CorneliadeLangesyndrometype4GeneRAD21 45days

ICM101302 CorneliadeLangeSyndrometype5.GeneHDAC8 45days

ICM102220 CorneliadeLangesyndrome.GeneNIPBL.CompletesequencingSanger. 45days

ICM102747 CorneliadeLangesyndrome.GeneNIPBL.Deletions-duplications(MLPA). 30days

ICM101303 Costellosyndrome.HRASgene 45days

ICM101304 Cowdensyndrometype1.GenePTEN 45days

ICM101305 Cowdensyndrometype2GeneSDHB 45days

ICM101306 Cowdensyndrometype3GeneSDHD 45days

ICM101307 Cowdensyndrometype4GeneKLLN 45days

ICM101308 Cowdensyndrometype5.GenePIK3CA 45days

ICM101309 Cowdensyndrometype6.GeneAKT1 45days

ICM102779 Cowdensyndrome.PTENgene.Deletions-duplications(MLPA). 30days

ICM101899 Craniofrontonasaldysplasia.GeneEFNB1.CompletesequencingSanger. 45days

ICM102676 Craniofrontonasaldysplasia.GeneEFNB1.Deletions-duplications(MLPA). 30days

ICM101238 Craniofrontonasalsyndrome.GeneEFNB1 45days

ICM101310 CraniosynostosissyndromeassociatedwithFGFR1 45days

ICM101311 CraniosynostosissyndromeassociatedwithFGFR2 45days



ICMcode Pathologydefinition TATICM101312 CraniosynostosissyndromeassociatedwithFGFR3.Muenke 45days

ICM102847 Craniosynostosis.GenesFGFR1,FGFR2,FGFR3,TWIST1,MSX2,ALX1,ALX3,ALX4,EFNB1,RUNX2.(MLPA). 30days

ICM102438 Creatinedeficiency.SLC6A8gene.CompletesequencingSanger. 45days

ICM100326 CreatinetransporterdeficiencyassociatedwithSLC6A8.SLC6A8gene 45days

ICM102536 CriglerNajjartype1syndrome.UGT1A1gene.TAinsertion. 45days

ICM101313 Crigler-Najjarsyndrome.UGT1A1gene 45days

ICM101315 Crouzonsyndrome.FGFR2gene 45days

ICM101316 Culler-Jonessyndrome.GeneGLI2 45days

ICM102162 Currarinosyndrome.MNX1gene(HLXB9).CompletesequencingSanger. 20days

ICM100052 Cutaneousalbinism.GenesGPR143,TYR 45days

ICM100817 Cutaneousandmucosalvenousmalformations.TEKgene 45days

ICM100214 Cutixautosomalrecessive1ALaxa.GeneFBLN5 45days

ICM100215 CutixautosomalrecessiveLaxa1B.GeneEFEMP2 45days

ICM100216 CutixautosomalrecessiveLaxa1C.GeneLTBP4 45days

ICM100218 CutixautosomalrecessiveLaxa2B.GenePYCR1 45days

ICM100219 CutixautosomalrecessiveLaxa3A.GeneALDH18A1 45days

ICM100220 CutixautosomalrecessiveLaxa3B.GenePYCR1 45days

ICM100212 CutixLaxaautosomaldominanttype1.GeneELN 45days

ICM100213 CutixLaxaautosomaldominanttype2GeneFBLN5 45days

ICM100217 CutixLaxaautosomalrecessivetype2A.GeneATP6V0A2 45days

ICM101907 CyclicNeutropenia.ELANEgene(ELA2).CompletesequencingSanger. 45days

ICM100638 Cysticfibrosis.CFTRgene 45days

ICM102645 Cysticfibrosis.CFTRgene.Deletions-duplications(MLPA). 30days

ICM101803 Cysticfibrosis.CFTRgene.DF508mutation. 15days

ICM102947 Cysticfibrosis.CFTRgene.FrequentmutationsandPoliT 20days

ICM101804 Cysticfibrosis.CFTRgene.PolymorphismIVS8-Tn(poly-T). 20days

ICM100185 Cystinosis.CTNSgene 45days

ICM102432 Cystinuria.SLC3A1gene(RBAT).CompletesequencingSanger. 45days

ICM102439 Cystinuria.SLC7A9gene.CompletesequencingSanger. 45days

ICM101865 Cytochrome2B6450.CYP2B6gene.CompletesequencingSanger. 45days

ICM101868 Cytochrome2D6450.CYP2D6gene.CompletesequencingSanger. 45days

ICM101867 Cytochrome4502C9.CYP2C9gene.CompletesequencingSanger. 45days

ICM102386 CytochromeCoxidasedeficiency.GeneSCO2.CompletesequencingSanger. 45days

ICM100186 CytopeniaassociatedwithX-linkedGATA1.GeneGATA1 45days

ICM101738 Darier-Whitedisease.GeneATP2A2.CompletesequencingSanger. 45days

ICM100601 Ddominantnocturnalfrontallobeepilepsytype3.GeneCHRNB2 45days

ICM101942 DeficiencyFructose1,6diphosphatase.GeneFBP1.CompletesequencingSanger. 45days

ICM102052 Deficiencyof3-hydroxy-3-methylglutaryl-CoAmitochondrial.GeneHMGCS2.CompletesequencingSanger. 45days

ICM102458 Deficiencyof5-alpha-reductase2.GeneSRD5A2.CompletesequencingSanger. 45days

ICM102815 Deficiencyof5-alpha-reductase2.GeneSRD5A2.Deletions-duplications(MLPA). 30days

ICM100271 Deficit3-hydroxyacyl-CoAdehydrogenaselongchain.GeneHADHA 45days

ICM100270 Deficit3hydroxyacyl-CoAdehydrogenase.GeneHADH 45days

ICM101681 Deficitacyl-CoAdehydrogenasefattyacidmediumchain.GeneACADM.CompletesequencingSanger. 45days

ICM100279 Deficitacyl-CoAdehydrogenasemediumchain.GeneACADM 45days

ICM100277 Deficitacyl-CoAdehydrogenaseshortchain.GeneACADS 45days

ICM100281 Deficitacyl-CoAdehydrogenaseverylongchain.GeneACADVL 45days

ICM101707 Deficitadenosinemonophosphate(AMP)deaminase.GeneAMPD1.CompletesequencingSanger. 45days



ICMcode Pathologydefinition TATICM101996 Deficitarginine:glycineamidinotransferase.GeneGATM(AGAT).CompletesequencingSanger. 45days

ICM100269 Deficitcarbamoyl-phosphatesynthetase1.CPS1gene 45days

ICM101869 Deficitcholesterol-7-alpha-hydroxylase.CYP7A1gene.CompletesequencingSanger. 45days

ICM100318 DeficitD-bifunctionalprotein.GeneHSD17B4 45days

ICM100319 DeficitE3-bindingproteinofpyruvatedehydrogenase.GenePDHX 45days

ICM101930 DeficitFactorVLeiden.F5gene.G1691Amutation(Arg506Gln). 10days

ICM101317 Deficitglucosetransportersyndrome,type1.GeneSLC2A1 45days

ICM100303 Deficitglucose-6-phosphatedehydrogenase.G6PDgene 45days

ICM100304 Deficitguanidinoacetatemethyltransferase.GeneGAMT 45days

ICM102400 Deficitmetabolismpulmonarysurfactant1.GeneSFTPB.CompletesequencingSanger. 45days

ICM102388 DeficitmitochondrialcomplexII.GeneSDHAF1.CompletesequencingSanger. 45days

ICM100309 DeficitofN-acetylglutamatesynthase.NAGSgene 45days

ICM100282 Deficitperoxisomalacyl-CoAoxidase.GeneACOX1 45days

ICM102427 DeficitsyndromeGlut-1.SLC2A1gene.CompletesequencingSanger. 45days

ICM102613 Deletions-duplications(MLPA)subtelomericregions 30days

ICM102921 DengueRNAdetection. 10days

ICM100506 Dent'sdisease.GenesCLCN5,OCRL 45days

ICM101318 Denys-Drashsyndrome.WT1gene 45days

ICM101626 DetectionandtypingofHumanPapillomacomplete,HPV 7days

ICM102895 DetectionMobiluncusmulierisDNAandMcurtisii. 10days

ICM102874 DetectionofBorreliaburgdorferiDNA. 10days

ICM102877 DetectionofChlamydiapneumoniaeDNA. 10days

ICM102878 DetectionofChlamydiatrachomatisDNA. 10days

ICM102922 DetectionofenterovirusRNA. 10days

ICM102869 DetectionofLegionellapneumophilaDNA. 10days

ICM102897 DetectionofMycobacteriumtuberculosisDNA. 10days

ICM102898 DetectionofMycoplasmahominisDNA. 10days

ICM102899 DetectionofMycoplasmapneumoniaeDNA. 10days

ICM102900 DetectionofNeisseriagonorrhoeaeDNA. 10days

ICM102901 DetectionofNeisseriameningitidisDNA. 10days

ICM102902 DetectionofParvovirusB19DNA. 10days

ICM102933 DetectionofRNAparamyxovirus(Measles). 10days

ICM102932 DetectionofRNAparamyxovirus(Mumps). 10days

ICM102912 DetectionofTreponemapallidumDNA. 10days

ICM102970 diGeorgesyndrome.Deleción22q11.21byFISH 5days

ICM102001 Diabetesmellituspermanentneonatal.GCKgene.CompletesequencingSanger. 45days

ICM101678 Diabetesmellituspermanentneonatal.GeneABCC8.CompletesequencingSanger. 45days

ICM102617 Diabetesmellituspermanentneonatal.GeneABCC8.Deletions-duplications(MLPA). 30days

ICM102097 Diabetesmellituspermanentneonatal.GeneKCNJ11.CompletesequencingSanger. 45days

ICM102721 Diabetesmellituspermanentneonatal.GeneKCNJ11.Deletions-duplications(MLPA). 30days

ICM102714 Diabetesmellituspermanentneonatal.INSgene.Deletions-duplications(MLPA). 30days

ICM102271 Diabetesmellituspermanentneonatal.PDX1gene(IPF1).CompletesequencingSanger. 45days

ICM102214 DiabetesMODY6.GeneNEUROD1.CompletesequencingSanger. 45days

ICM102055 Diabetes.MODY1.GeneHNF4A.CompletesequencingSanger. 45days

ICM102053 Diabetes.MODY3.GeneHNF1A(TCF1).CompletesequencingSanger. 45days

ICM102054 Diabetes.MODY5.GeneHNF1B.CompletesequencingSanger. 45days

ICM102849 Diabetes.MODY.GenesGCK,HNF1A,HNF1B,HNF4A.Deletions-duplications(MLPA). 30days



ICMcode Pathologydefinition TATICM100063 Diamond-Blackfananemiatype1.GeneRPS19 45days

ICM100064 Diamond-Blackfananemiatype10.GeneRPS26 45days



ICM100067 Diamond-Blackfananemiatype5.GeneRPL35A 45days

ICM100068 Diamond-Blackfananemiatype6.GeneRPL5 45days

ICM100069 Diamond-Blackfananemiatype7.GeneRPL11 45days

ICM100070 Diamond-Blackfananemiatype8.Generps7 45days


ICM102369 Diamond-Blackfananemia.RPS19gene.CompletesequencingSanger. 45days

ICM102784 Diamond-Blackfananemia.RPS19gene.Deletions-duplications(MLPA). 30days

ICM102424 Diastrophicdysplasia.SLC26A2gene.CompletesequencingSanger. 45days

ICM102820 DiGeorgesyndrome.GeneTBX1.Deletions-duplications(MLPA). 30days

ICM101884 Dihydropyrimidinedehydrogenasedeficiency.DPYDgene(DPD).CompletesequencingSanger. 45days

ICM100301 Dihydropyrimidinedehydrogenasedeficiency.GeneDPYD 45days

ICM102507 Dilatedcardiomyopathy1Ytype.GeneTPM1.CompletesequencingSanger. 45days

ICM102124 Dilatedcardiomyopathyfamilyisolated1C.GeneLDB3.CompletesequencingSanger. 45days

ICM101756 Dilatedcardiomyopathyfamilyisolation.BAG3gene.CompletesequencingSanger. 45days

ICM101685 Dilatedcardiomyopathytype1R.GeneACTC1.CompletesequencingSanger. 45days

ICM102187 Dilatedcardiomyopathy.GeneMYH7.CompletesequencingSanger. 45days

ICM102730 Dilatedcardiomyopathy.LMNAgene.Deletions-duplications(MLPA). 30days

ICM102497 Dilatedmiocardiopathytype1Z.GeneTNNC1.CompletesequencingSanger. 45days

ICM102499 Dilatedmiocardiopathytype7.GeneTNNI3.CompletesequencingSanger. 45days

ICM102501 Dilatedtype1D.GeneTNNT2.CompletesequencingSanger. 45days

ICM101852 Dilatedtype1M.GeneCSRP3.CompletesequencingSanger. 45days

ICM102297 Diseasemuscle-eye-brain.GenePOMGNT1.CompletesequencingSanger. 45days

ICM101879 DisostosisspondylocostalAR.GeneDLL3.CompletesequencingSanger. 45days

ICM102042 DisostosisspondylocostalAR.GeneHes7.CompletesequencingSanger. 30days

ICM100378 Disostosisspondylocostaltype3.GeneLFNG 45days

ICM100379 Disostosisspondylocostaltype4.GeneHES7 45days

ICM102128 Disostosisspondylocostal,AR,type3.GeneLFNG.CompletesequencingSanger. 45days

ICM100867 DistalMiyoshimyopathy.GeneDYSF 45days

ICM100868 Distalmyopathytype2.GeneMATR3 45days

ICM100869 Distalmyopathytype4.GeneCNLF 45days

ICM101740 Distalrenaltubularacidosis,AR.GeneATP6V0A4.CompletesequencingSanger. 45days

ICM101741 Distalrenaltubularacidosis.GeneATP6V1B1.CompletesequencingSanger. 35days

ICM102435 Distalrenaltubularacidosis.SLC4A1gene.CompletesequencingSanger. 45days

ICM100134 Distalspinalmuscularatrophytype4autosomalrecessive.GenePLEKHG5 45days

ICM101995 DistalSpinalMuscularAtrophyTypeV.GeneGARS.CompletesequencingSanger. 45days

ICM100418 DKC1relateddyskeratosiscongenita.GeneDKC1 45days

ICM100714 DLL1relatedholoprosencephaly.GeneDLL1 45days

ICM102919 DNAdetectionanddifferentiationpolyomavirusBKandJC:ViralLoad. 10days

ICM102868 DNAdetectionBacteroidesfragilis. 10days

ICM102872 DNAdetectionBartonellahenselae. 10days

ICM102873 DNAdetectionBordetella(PertussisandParapertusis). 10days

ICM102879 DNAdetectionCytomegalovirus(CMV). 10days

ICM102881 DNAdetectionEhrlichia(phagocytophila,chaffeensis,ewingii). 10days



ICMcode Pathologydefinition TATICM102882 DNAdetectionEntamoebahistolytica. 10days

ICM102883 DNAdetectionEpsteinBarr(EBV). 10days

ICM102885 DNAdetectionHaemophilusducreyi. 10days

ICM102887 DNAdetectionHerpeszoster(HHV-3) 10days

ICM102886 DNAdetectionhumanherpesvirus6(HSV-6). 10days

ICM102890 DNAdetectionLeishmaniadonovani. 10days

ICM102892 DNAdetectionLeptospiraspp. 10days

ICM102894 DNAdetectionLoaloa(Loasis-filariasissubcutaneous) 10days

ICM102896 DNAdetectionMycobacteriumspp. 10days

ICM102871 DNAdetectionofAspergillusspp. 10days

ICM102875 DNAdetectionofBrucellaspp. 10days

ICM102880 DNAdetectionofCoxiellaburnetii. 10days

ICM102884 DNAdetectionofGardnerellavaginalis. 10days

ICM102891 DNAdetectionofLeishmaniaspp. 10days

ICM102893 DNAdetectionofListeriamonocytogenes 10days

ICM102908 DNAdetectionofStreptococcuspneumoniae. 10days

ICM102905 DNAdetectionRickettsiaspp. 10days

ICM102906 DNAdetectionShigellaspp. 10days

ICM102911 DNAdetectionToxoplasmosis(amnioticfluid) 10days

ICM102913 DNAdetectionTrichomonasvaginalis. 10days

ICM102915 DNAdetectionTropherymawhippelii. 10days

ICM102914 DNAdetectionTrypanosomacruzi. 10days

ICM102916 DNAdetectionUreaplasmaurealyticum. 10days

ICM102909 DNAdetectionvagTipoBstreptococci(GBS). 10days

ICM102917 DNAdetectionVaricella-Zoster(HHV-3). 10days

ICM102918 DNAdetectionWuchereriabancrofti(LF) 10days

ICM102867 DNAquantitationCytomegalovirus(CMV). 10days

ICM100600 Dominantnocturnalfrontallobeepilepsytype1.GeneCHRNA4 45days

ICM100602 Dominantnocturnalfrontallobeepilepsytype4.GeneCHRNA2 45days

ICM101508 Donnai-Barrowsyndrome.GeneLRP2 45days

ICM102000 Dopa-responsivedystoniaprimaryAD.GeneGCH1.CompletesequencingSanger. 45days

ICM101323 Dravetsyndrome.GeneSCN1A 45days

ICM101324 DuanesyndromeRadial-Ray.GeneSALL4 45days

ICM102789 Duane-radialraysyndrome.GeneSALL4.Deletions-duplications(MLPA). 30days

ICM102671 Duchennemusculardystrophy/Becker.DMDgene.Deletions-duplications(MLPA). 30days

ICM100467 Duchennemusculardystrophy-Becker.DMDgene 45days

ICM100087 DyserythropoieticcongenitalanemiatypeI.GeneCDAN1 45days

ICM100088 DyserythropoieticcongenitalanemiatypeII.GeneSEC23B 45days

ICM100089 DyserythropoietictypeIVcongenitalanemia.GeneKLF1 45days

ICM100419 DyskeratosiscongenitarelatedtoNHP2.GeneNHP2 45days

ICM100420 DyskeratosiscongenitarelatedtoNop10.GeneNop10 45days

ICM100421 DyskeratosiscongenitarelatedtoTERT.TERTgene 45days

ICM100422 DyskeratosiscongenitarelatedtoTINF2.GeneTINF2 45days

ICM100423 DyskeratosiscongenitarelatedtoWrap53.GeneWrap53 45days

ICM102225 Dyskeratosiscongenitatype1.GeneNOP10.CompletesequencingSanger. 45days

ICM102480 Dyskeratosiscongenitatype1.GeneTERCAD(TR).CompletesequencingSanger. 45days

ICM102218 Dyskeratosiscongenitatype2.NHP2Gen.CompletesequencingSanger. 45days



ICMcode Pathologydefinition TATICM102481 Dyskeratosiscongenita.TERTgene.CompletesequencingSanger. 45days

ICM100410 DysplasiaGeleofísicatype1.GeneADAMTSL2 45days

ICM100429 Dystoniaandparkinsonismwithhipermanganesemia,polycythemiaandchronicliverdisease.GeneSLC30A10 45days

ICM100430 Dystonia-parkinsonismearlyonset.GeneATP1A3 45days

ICM100432 Dystonia-parkinsonismXlinked.GeneTAF1 45days

ICM100484 Earlyinfantileepilepticencephalopathytype10.GenePNKP 45days

ICM100485 Earlyinfantileepilepticencephalopathytype11.GeneSCN2A 45days

ICM100486 Earlyinfantileepilepticencephalopathytype12.GenePLCB1 45days

ICM100487 Earlyinfantileepilepticencephalopathytype13.GeneSCN8A 45days

ICM100488 Earlyinfantileepilepticencephalopathytype15.GeneST3Gal3 45days

ICM100489 Earlyinfantileepilepticencephalopathytype16.GeneTBC1D24 45days

ICM100490 Earlyinfantileepilepticencephalopathytype3GeneSLC25A22 45days

ICM102422 Earlyinfantileepilepticencephalopathytype3.GeneSLC25A22.CompletesequencingSanger. 45days

ICM100491 Earlyinfantileepilepticencephalopathytype4GeneSTXBP1 45days

ICM102468 Earlyinfantileepilepticencephalopathytype4.GeneSTXBP1.CompletesequencingSanger. 45days

ICM100492 Earlyinfantileepilepticencephalopathytype5.GeneSPTAN1 45days

ICM100493 Earlyinfantileepilepticencephalopathytype7.GenKCNQ2 45days

ICM102101 Earlyinfantileepilepticencephalopathytype7.KCNQ2gene.CompletesequencingSanger. 45days

ICM100494 Earlyinfantileepilepticencephalopathytype8.GeneARHGEF9 45days

ICM100495 Earlyinfantileepilepticencephalopathytype9.GenePCDH19 45days

ICM102979 Ectrodactily-tybialaplasy.CompletesequencinggeneBHLHA9 30days

ICM102652 Ehlers-Danlosdisease.COL1A1gene.Deletions-duplications(MLPA). 30days

ICM102654 Ehlers-Danlosdisease.COL1A2gene.Deletions-duplications(MLPA). 30days

ICM102823 Ehlers-Danlossyndromehypermobiletype.GeneTNXB.Deletions-duplications(MLPA). 30days

ICM101325 Ehlers-DanlosSyndromekiphoescoliotic.GenePLOD1 45days

ICM101326 Ehlers-DanlosSyndromeprogeroid.GeneB4GALT7 45days

ICM101327 Ehlers-DanlossyndromerelatedtoCOL5A2.COL5A2gene 45days

ICM102663 Ehlers-DanlossyndrometypeI.COL5A1gene.Deletions-duplications(MLPA). 30days

ICM101328 Ehlers-DanlosSyndromeTypeIII.COL3A1gene 45days

ICM101329 Ehlers-DanlosSyndromeTypeIV.COL3A1gene 45days

ICM102659 Ehlers-DanlossyndrometypeIV.COL3A1gene.Deletions-duplications(MLPA). 30days

ICM102287 Ehlers-DanlossyndrometypeVI.GenePLOD1.CompletesequencingSanger. 45days

ICM102770 Ehlers-DanlossyndrometypeVI.GenePLOD1.Deletions-duplications(MLPA). 30days

ICM101331 Ehlers-DanlosSyndromeTypeVIIC.GeneADAMTS2 45days

ICM101832 Ehlers-DanlossyndrometypeVIIB.COL1A2gene.CompletesequencingSanger. 45days

ICM101831 Ehlers-Danlossyndrome.COL1A1gene.CompletesequencingSanger. 45days

ICM100407 Eikenskeletaldysplasia.GenePTH1R 45days

ICM100472 Emery-DreifussMuscularDystrophyAutosomaldominanttype4.GeneSYNE1 45days

ICM100470 Emery-DreifussMuscularDystrophytype2.GeneLMNA 45days

ICM100471 Emery-DreifussMuscularDystrophytype3.GeneLMNA 45days

ICM100473 Emery-DreifussMuscularDystrophytype5.GeneSYNE2 45days

ICM100474 Emery-DreifussMuscularDystrophytype7.GeneTMEM43 45days

ICM101910 Emery-DreifussMuscularDystrophyX-linkedgeneEMD.CompletesequencingSanger. 45days

ICM100468 Emery-DreifussMuscularDystrophyX-linkedtype1.GeneEMD 45days

ICM100469 Emery-DreifussMuscularDystrophyX-linkedtype6.GeneFHL1 45days

ICM102737 Encephalopathy.MECP2gene.Deletions-duplications(MLPA). 30days

ICM100966 EndoPredict 4days



ICMcode Pathologydefinition TATICM100576 Epidermolysisbullousdystrophic.COL7A1gene 45days

ICM102082 Epidermolysisbullousjunctionalwithpyloricstenosis.GeneITGA6.CompletesequencingSanger. 45days

ICM102112 Epidermolysisbulloussimple,AR,type1.GeneKRT14.CompletesequencingSanger. 45days

ICM102116 Epidermolysisbulloussimple.GeneKRT5.CompletesequencingSanger. 45days

ICM102111 Epidermolyticichthyosis.KRT10gene.CompletesequencingSanger. 45days

ICM102129 Epilepsywithhearingimpairment,AD.GeneLGI1.CompletesequencingSanger. 45days

ICM100394 Epiphysealmultipledysplasiadominanttype1.GeneCOMP 45days

ICM100396 Epiphysealmultipledysplasiadominanttype2.GeneCOL9A2 45days

ICM100399 Epiphysealmultipledysplasiadominanttype3.GeneCOL9A3 45days

ICM100400 Epiphysealmultipledysplasiadominanttype5.GeneMATN3 45days

ICM100403 Epiphysealmultipledysplasiadominanttype6.COL9A1gene 45days

ICM100111 Episodicataxiatype1.GeneKCNA1 45days

ICM102719 Episodicataxiatype1.GeneKCNA1.Deletions-duplications(MLPA). 30days

ICM101780 Episodicataxiatype2.GenCACNA1A.CAGexpansion. 30days

ICM100112 Episodicataxiatype2.GeneCACNA1A 45days

ICM100113 Episodicataxiatype5.GeneCACNB4 45days

ICM100114 EpisodicAtaxiaType6GeneSLC1A3 45days

ICM100611 ErythromelalgiahereditaryrelatedtoSCN9A.GeneSCN9A 45days

ICM101980 EssentialTremorhereditary4.GeneFUS(TLS).CompletesequencingSanger. 45days

ICM101920 Estrogenresistance.GeneESR1(ER).CompletesequencingSanger. 45days

ICM101616 ExpandedNewbornScreeningforMetabolopathies 20days

ICM101627 ExpressionofE6andE7oncoproteinsofhumanpapillomavirushigh-riskHPV 10days

ICM100508 Fabrydisease.GLAgene 45days

ICM102016 Fabrydisease.GLAgene.CompletesequencingSanger. 45days

ICM102701 Fabrydisease.GLAgene.Deletions-duplications(MLPA). 30days

ICM101978 Facioescapulohumeraldystrophy.FSHDgene.D4Z4expansion. 30days

ICM101929 FactorIIdeficiency(Protombrina).GeneF2.G20210A. 10days

ICM100631 FactorVLeiden;thrombophilia.GeneF5 45days

ICM101931 FactorVIIdeficiency.F7gene.CompletesequencingSanger. 45days

ICM101926 FactorXIIdeficiency.GeneF12.C46Tmutation. 15days

ICM101928 FactorXIIdeficiency.GeneF12.CompletesequencingSanger. 45days

ICM101927 FactorXIIdeficiency.GeneF12.Val34Leumutation. 15days

ICM102969 Familialadenomatouspolyposis3.CompleteSangersequencing 45days

ICM101711 Familialadenomatouspolyposis.APCgene.CompletesequencingSanger. 45days

ICM102528 Familialamyloidpolyneuropathy.TTRgene.CompletesequencingSanger. 45days

ICM100612 Familialamyotrophiclateralsclerosiswithfrontotemporaldementia.GeneC9orf72 45days

ICM101585 Familialexudativevitreoretinopathytype1.GeneFZD4 45days

ICM101586 Familialexudativevitreoretinopathytype2.GeneNDP 45days

ICM101587 Familialexudativevitreoretinopathytype4.GeneLRP5 45days

ICM101588 Familialexudativevitreoretinopathytype5.GeneTSPAN12 45days

ICM101736 Familialhemiplegicmigrainetype2.ATP1A2gen.CompletesequencingSanger. 45days

ICM102633 Familialhemiplegicmigrainetype2.ATP1A2Gen.Deletions-duplications(MLPA). 30days

ICM102791 Familialhemiplegicmigrainetype3.GeneSCN1A.Deletions-duplications(MLPA). 30days

ICM101860 Familialhyperaldosteronismtype1.GeneCYP11B2.CompletesequencingSanger. 45days

ICM101859 Familialhyperaldosteronism.CYP11B1gene.CompletesequencingSanger. 45days

ICM101715 Familialhypercholesterolemia.GeneAPOB.MutationsArg3500Gln;3531CysArg;Arg3480Trp. 15days

ICM101716 Familialhypercholesterolemia.GeneAPOB.MutationsArg3500Gln;Arg3500Trp;His3543Tyr. 15days



ICMcode Pathologydefinition TATICM101714 Familialhypercholesterolemia.GeneAPOB.P.Arg3500Glnmutation. 15days

ICM102125 Familialhypercholesterolemia.LDLRgene.CompletesequencingSanger. 45days

ICM102729 Familialhypercholesterolemia.LDLRgene.Deletions-duplications(MLPA). 30days

ICM102265 Familialhypercholesterolemia.PCSK9gene(NARC1).CompletesequencingSanger. 45days

ICM102189 Familialhypertrophiccardiomyopathytype8.GeneMYL3.CompletesequencingSanger. 45days

ICM102620 Familialisolatedpituitaryadenoma.AIPgene.Deletions-duplications(MLPA). 30days

ICM100639 FamilialMediterraneanFever.GeneMEFV 45days

ICM102144 Familialmelanoma-susceptibility.MC1Rgene.CompletesequencingSanger. 45days

ICM102380 Familialneonatal-infantileseizuresbenign.GeneSCN2A.CompletesequencingSanger. 45days

ICM102391 Familialparaganglioma1-pheochromocytoma.SDHDgene.CompletesequencingSanger. 25days

ICM102389 Familialparaganglioma4-pheochromocytoma.SDHBgene.CompletesequencingSanger. 45days

ICM102860 Familialparagangliomatypes1,3and4-pheochromocytoma.GenesSDHB,SDHC,SDHD.(MLPA). 30days

ICM102495 Familialperiodicfever/TRAPS.GeneTNFRSF1A.CompletesequencingSanger. 45days

ICM102744 Familiardilated1Stype.GeneMYH7.Deletions-duplications(MLPA). 30days

ICM102743 Familiardilatedcardiomyopathy1MMtype.GeneMYBPC3.Deletions-duplications(MLPA). 30days

ICM102954 Familydoublemutationstudy 30days

ICM102188 Familyhypertrophiccardiomyopathytype10.GeneMYL2.CompletesequencingSanger. 45days

ICM100328 Familylipoproteinlipasedeficiency.LPLgene 45days

ICM102738 FamilyMediterraneanfever.GeneMEFV.Deletions-duplications(MLPA). 30days

ICM102151 FamilyMediterraneanfever.GeneMEFV.Exons2,3,5and10. 35days

ICM102681 FanconianemiatypeA.GeneFANCA.Deletions-duplications(MLPA). 30days

ICM100072 Fanconianemia,complementationgroupB.GeneFANCB 45days

ICM100073 Fanconianemia,complementationgroupC.GeneFANCC 45days

ICM100077 Fanconianemia,complementationgroupD1.BRCA2gene 45days

ICM100078 Fanconianemia,complementationgroupD2.FANCD2gene 45days

ICM100074 Fanconianemia,complementationgroupE.GeneFANCE 45days

ICM100079 Fanconianemia,complementationgroupF.GeneFANCF 45days

ICM100075 Fanconianemia,complementationgroupG.GeneFANCG 45days

ICM100080 Fanconianemia,complementationgroupI.GeneFANCI 45days

ICM100081 Fanconianemia,complementationgroupJ.GeneBRIP1 45days

ICM100082 Fanconianemia,complementationgroupL.GeneFANCL 45days

ICM100083 Fanconianemia,complementationgroupM.GeneFANCM 45days

ICM100076 Fanconianemia,complementationgroupN.GenePALB2 45days

ICM100084 Fanconianemia,complementationgroupO.GeneRAD51C 45days

ICM100085 Fanconianemia,complementationgroupP.GeneSLX4 45days

ICM100086 Fanconianemia,complementationgroup.FANCAgene 45days

ICM101336 Fanconi-Bickelsyndrome.SLC2A2gene 45days

ICM102184 Feingoldsyndrome.MYCNgene.CompletesequencingSanger. 45days

ICM102640 FGsyndrome:Opitz-Kaveggia.CASKgene.Deletions-duplications(MLPA). 30days

ICM101686 Fibrodysplasiaossificansprogressiva.ACVR1gene.CompletesequencingSanger. 45days

ICM102231 Finnishtypecongenitalnephroticsyndrome.NPHS1gene.CompletesequencingSanger. 45days

ICM101637 FIP1L1-PDGFRA(fusiongene) 15days

ICM102603 FISHALKrearrangements[the(2p);t(2;5)] 15days

ICM102594 FISHchromosome12centromericprobe 15days



ICM102578 FISHdeletion17p 15days



ICMcode Pathologydefinition TATICM102580 FISHdeletion5q 15days

ICM102582 FISHdeletion7q 15days

ICM102584 FISHforLLA,adultform(6probes-t(9;22),KMT2A11q23,CEN3,cen7,cen9,cen15) 20days

ICM102585 FISHforLLC(4probes-13q-,11q17p-,+12) 15days

ICM102586 FISHforLLC(5sondas-13q-,11q17p-,+12,IgH) 15days

ICM102587 FISHforLLC(6probes-6q-,13q-,11q,17p-,+12,IgH) 15days

ICM102588 FISHforLMA(7probes-t(15;17),inv(16),t(8;21),11q,5q,7q-,BCL6) 15days

ICM102589 FISHforMM(3probes-cen5,cen9,cen15) 15days

ICM102590 FISHforMM(4probes-13q-,17p-,t(4;14(t(11;14)) 15days

ICM102591 FISHforMM(6probes-+6,+9,13q-,17p-,t(4;14),t(11;14)) 15days

ICM102592 FISHforSMD(3probes-5q,7q-,20q-) 15days

ICM102608 FISHIGHrearrangements(14q23) 15days

ICM102949 FISHinsperm,5probes 10days

ICM102610 FISHMLLrearrangements(11q23) 15days

ICM102569 FISHoft(11;14)IGH/CCND1 15days

ICM102570 FISHoft(11;18)API2/MALT1 15days

ICM102571 FISHoft(14;16)IGH/MAF 15days

ICM102572 FISHoft(14;18)IGH/BCL2 15days

ICM102573 FISHoft(14;18)IGH/MALT1 15days

ICM102574 FISHoft(4;14)IGH/FGFR3 15days

ICM102575 FISHoft(8;14)MYC/IGH 15days

ICM102576 FISHoft(9;22)BCR/ABL 15days

ICM102593 FISHPDGFRB(5q32) 15days

ICM102597 FISHprobecentromericchromosome9 15days

ICM102604 FISHrearrangementsATM(11q22.3) 15days

ICM102605 FISHrearrangementsBCL6(3q27) 15days

ICM102607 FISHrearrangementsc-MYC(8q24) 15days

ICM102606 FISHrearrangementsCBFBinv(16)/t(16;16) 15days

ICM102609 FISHrearrangementsMALT1(18q21) 15days

ICM102568 FISHrearrangementsNHL(dup3) 15days

ICM102611 FISHrearrangementsRARA(17q21) 15days

ICM102583 FISH-RforMM(5probes-IgH13q-,17p-,t(4;14),t(11;14)) 15days

ICM102612 FISH-RforMM(5probes-IgH13q-,17p-,t(4;14),t(11;14)) 15days

ICM100698 FocalDermalHypoplasia.GenePORCN 45days

ICM102300 FocalDermalHypoplasia.GenePORCN.CompletesequencingSanger. 45days

ICM101359 Follicularichthyosissyndrome-Atrichia-photophobia.GeneMBTPS2 45days

ICM100716 FOXH1relatedholoprosencephaly.GeneFOXH1 45days

ICM102948 Fragmentationspermatic 10days

ICM101977 Frasersyndrome.GeneFREM2.CompletesequencingSanger. 45days

ICM102185 Freeman-Sheldonsyndrome.MYH3gene.CompletesequencingSanger. 45days

ICM102527 FriedreichAtaxia-likewithvitaminEdeficiency.GenTTPA.CompletesequencingSanger. 45days

ICM101982 Friedreich'sataxia.FXNgene(FRDA,X25).CompletesequencingSanger. 45days

ICM101981 Friedreich'sataxia.FXNgene(FRDA,X25).GAAexpansion. 30days

ICM102032 Fronto-temporaldementia.GRNgene(PGRN).CompletesequencingSanger. 45days

ICM102142 Fronto-temporaldementia.MAPTgene.CompletesequencingSanger. 45days

ICM100780 Fructoseintolerance.GeneALDOB 45days

ICM102621 Fructoseintolerance.GeneALDOB.Deletions-duplications(MLPA). 30days



ICMcode Pathologydefinition TATICM101702 Fructoseintolerance.GeneALDOB.MutationsA149P;A174D;N334K. 20days

ICM100640 Fucosidosis.GeneFUCA1 45days

ICM101964 Fukuyamacongenitalmusculardystrophytype.GeneFKTN.CompletesequencingSanger. 45days

ICM100437 Fukuyamacongenitalmusculardystrophy.GeneFKTN 45days

ICM101613 FullexomeTrio(>20,000genes) 45days

ICM101960 Fumarasedeficit.FHgene.CompletesequencingSanger. 45days

ICM100642 Fundusflavimaculatus.GeneABCA4 45days

ICM101991 GalactosemiatypeIII-DeficitUDP-galactose-4epimeras.GALEgene.CompletesequencingSanger. 45days

ICM100644 Galactosemia.GALTgene 45days

ICM102695 Galactosemia.GALTgene.Deletions-duplications(MLPA). 30days

ICM100645 GangliosidosisGM1.GeneGLB1 45days

ICM102017 Gangliosidosistype1.GeneGLB1.CompletesequencingSanger. 45days

ICM101337 Gardnersyndrome.APCgene 45days

ICM100717 GAS1relatedholoprosencephaly.GeneGAS1 45days

ICM101997 Gaucherdisease.GBAgene.CompletesequencingSanger. 45days

ICM100411 Geleofísicadysplasiatype2GeneFBN1 45days

ICM100302 GenedeficitfactorV.GeneF5 45days

ICM101641 GeneMTTK.MutationsA8344G;T8356C;G8363A;A8296G;G8361A. 20days

ICM101640 GeneMTTK.MutationsA8344G;T8356C. 15days

ICM101639 GeneMTTK.T8993Gmutation. 20days

ICM101989 Generalizedepilepsywithfebrileseizuresplus10.GeneGABRDtype.CompletesequencingSanger. 45days

ICM102379 Generalizedepilepsywithfebrileseizuresplustype1.GenSCN1B.CompletesequencingSanger. 45days

ICM102378 Generalizedepilepsywithfebrileseizuresplustype2.GeneSCN1A.CompletesequencingSanger. 45days

ICM101990 Generalizedepilepsywithfebrileseizuresplus.GeneGABRG2.CompletesequencingSanger. 45days

ICM101646 GenesCYP11B1/CYP11B2.Detectionofthechimericgene. 20days

ICM101647 GenesMT-ND(MT-ND1/MT-ND4/MT-ND6).G11778Amutation;T14484C;G3460A. 20days

ICM101617 Geneticanalysisofnutritionalmetabolismandphysicalperformance 20days

ICM102943 Geneticanalysisofsportsperformance 20days

ICM100570 Geneticpriondiseases.PRNPgene 45days

ICM101622 Genetictestcarriersofmonogenicdiseases(individual) 25days

ICM101623 Genetictestcarriersofmonogenicdiseases(pair) 25days

ICM101618 Genetictestingcombinedfoodintolerances,lactose,fructoseandGluten 20days

ICM102314 Gerstmann-Strausslersyndrome.PRNPgene.CompletesequencingSanger. 45days

ICM100926 Giantaxonalneuropathy.GANgene 45days

ICM101338 Gilbertsyndrome.UGT1A1gene 45days

ICM102971 GillesdelaTourettesyndrome.CompleteSangersequencing 45days

ICM100455 Girdlemusculardystrophy(LimbGirdle-)2Htype.TRIM32gene 45days

ICM100443 Girdlemusculardystrophy(LimbGirdle-)type1A.GeneMyot 45days

ICM100444 Girdlemusculardystrophy(LimbGirdle-)type1B.LMNAgene 45days

ICM100448 Girdlemusculardystrophy(LimbGirdle-)type2A.GeneCAPN3 45days

ICM100449 Girdlemusculardystrophy(LimbGirdle-)type2B.GeneDYSF 45days

ICM100450 Girdlemusculardystrophy(LimbGirdle-)type2C.GeneSGCG 45days

ICM100451 Girdlemusculardystrophy(LimbGirdle-)type2D.GeneSGCA 45days

ICM100453 Girdlemusculardystrophy(LimbGirdle-)type2F.GeneSGCD 45days

ICM100458 Girdlemusculardystrophy(LimbGirdle-)type2K.GenePOMT1 45days

ICM100462 Girdlemusculardystrophy(Limb-Girdle)2Otype.GenePOMGNT1 45days

ICM100464 Girdlemusculardystrophy(Limb-Girdle)2Rtype.DESgene 45days



ICMcode Pathologydefinition TATICM100465 Girdlemusculardystrophy(Limb-Girdle)2Stype.GeneTRAPPC11 45days

ICM100445 Girdlemusculardystrophy(Limb-Girdle)Type1C.GeneCAV3 45days

ICM100446 Girdlemusculardystrophy(Limb-Girdle)type1D.DESgene 45days

ICM100447 Girdlemusculardystrophy(Limb-Girdle)type1E.GeneDNAJB6 45days

ICM100452 Girdlemusculardystrophy(Limb-Girdle)type2E.GeneSGCB 45days

ICM100454 Girdlemusculardystrophy(Limb-Girdle)type2G.TCAPgene 45days

ICM100456 Girdlemusculardystrophy(Limb-Girdle)type2I.GeneFKRP 45days

ICM100457 Girdlemusculardystrophy(Limb-Girdle)type2J.TTNgene 45days

ICM100459 Girdlemusculardystrophy(Limb-Girdle)type2L.GeneANO5 45days

ICM100460 Girdlemusculardystrophy(Limb-Girdle)type2M.GeneFKTN 45days

ICM100461 Girdlemusculardystrophy(Limb-Girdle)type2N.GenePOMT2 45days

ICM100463 Girdlemusculardystrophy(Limb-Girdle)type2Q.GenePLEC 45days

ICM102402 Girdlemusculardystrophy,Limb-girdle,2Dtype.GeneSGCA.CompletesequencingSanger. 45days

ICM101787 Girdlemusculardystrophy,Limb-girdle,type1Corcaveolinopathies.GeneCAV3.CompletesequencingSanger. 45days

ICM101783 Girdlemusculardystrophy,Limb-girdle,type2A.GeneCAPN3.CompletesequencingSanger. 45days

ICM101891 Girdlemusculardystrophy,Limb-girdle,type2B.GeneDYSF.CompletesequencingSanger. 45days

ICM102675 Girdlemusculardystrophy,Limb-girdle,type2B.GeneDYSF.Deletions-duplications(MLPA). 30days

ICM102406 Girdlemusculardystrophy,Limb-girdle,type2C.GeneSGCG.CompletesequencingSanger. 45days

ICM102403 Girdlemusculardystrophy,Limb-girdle,type2E.GeneSGCB.CompletesequencingSanger. 45days

ICM102404 Girdlemusculardystrophy,Limb-girdle,type2F.GeneSGCD.CompletesequencingSanger. 45days

ICM102476 Girdlemusculardystrophy,Limb-girdle,type2G.TCAPgene.CompletesequencingSanger. 45days

ICM102517 Girdlemusculardystrophy,Limb-girdle,type2H.GeneTRIM32(BBS11).CompletesequencingSanger. 45days

ICM102622 Girdlemusculardystrophy,Limb-girdle,type2L.GeneYEAR5.Deletions-duplications(MLPA). 30days

ICM102861 Girdlemusculardystrophy,Limb-girdle.GenesSGCA,SGCB,SGCD,SGCG,FKRP.(MLPA). 30days

ICM102418 Gitelmansyndrome.SLC12A3gene.CompletesequencingSanger. 45days

ICM102803 Gitelmansyndrome.SLC12A3gene.Deletions-duplications(MLPA). 30days

ICM100649 Glucogenosis(hereditarymetabolicdisorders) 45days

ICM100650 Glucogenosis0,Liver.GeneGYS2 45days

ICM100651 Glucogenosis0,Muscle.GeneGYS1 45days

ICM102310 Glucogenosisheart,lethal.GenePRKAG2.CompletesequencingSanger. 45days

ICM100011 GlutaricacidemiatypeI.GeneGCDH 45days

ICM101999 GlutaricaciduriatypeI.GeneGCDH.CompletesequencingSanger. 45days

ICM102002 Glycineencephalopathychild.GeneGCSH.CompletesequencingSanger. 45days

ICM101985 GlycogenstoragediseaseduetoG6Pdeficiencytype1A.GeneG6PC.Arg83Cysmutation;Gln347X 20days

ICM101986 GlycogenstoragediseaseduetoG6Pdeficiencytype1A.GeneG6PC.CompletesequencingSanger. 45days

ICM102431 Glycogenstoragediseasetype1B.SLC37A4gene(G6PT1).CompletesequencingSanger. 45days

ICM101998 GlycogenStorageDiseaseTypeIV.GeneGBE1.CompletesequencingSanger. 45days

ICM102334 GlycogenstoragediseasetypeVIb.GenePYGL.CompletesequencingSanger. 45days

ICM102273 GlycogenstoragediseasetypeVII.GenePFKM.CompletesequencingSanger. 45days

ICM100558 GlycoGeneStorageDiseaseTypeGeneX.PGAM2 45days

ICM100550 GlycoGeneStorageDiseaseTypeIa.GeneG6PC 45days

ICM100551 GlycoGeneStorageDiseaseTypeIb.SLC37A4gene 45days

ICM100552 GlycoGeneStorageDiseaseTypeII.GAAgene 45days

ICM100553 GlycoGeneStorageDiseaseTypeIII.GeneAGL 45days

ICM100554 GlycoGeneStorageDiseaseTypeIV.GeneGBE1 45days

ICM100555 GlycoGeneStorageDiseaseTypeVGenePYGM 45days

ICM100556 GlycoGeneStorageDiseaseTypeVI.GenePYGL 45days



ICMcode Pathologydefinition TATICM100557 GlycoGeneStorageDiseaseTypeVII.GenePFKM 45days

ICM100559 GlycoGeneStorageDiseaseTypeXI.GeneLDHA 45days

ICM100560 GlycoGeneStorageDiseaseTypeXII.GeneALDOA 45days

ICM100561 GlycoGeneStorageDiseaseTypeXIII.GeneENO3 45days

ICM100562 GlycoGeneStorageDiseaseTypeXIV.PGM1gene 45days

ICM101988 GlycogenosistypeII.GAAgene.CompletesequencingSanger. 45days

ICM100652 GlycogenosisTypeIXb.GenePHKB 45days

ICM100653 GlycogenosistypeIXA1.GenePHKA2 45days

ICM100654 GlycogenosistypeIXc.GenePHKG2 45days

ICM100655 GlycogenosistypeIXd.GenePHKA1 45days

ICM102336 GlycogenosistypeV.GenePYGM.CompletesequencingSanger. 45days

ICM102335 GlycogenosistypeV.GenePYGM.MutationsR49X;G204S;W797R;Y84X;708/709. 20days

ICM100646 GM2gangliosidosis,ABvariant.GeneGM2A 45days

ICM102460 Gonadaldysgenesis46,XY.SRYgene.Determiningthepresenceorabsence. 10days

ICM102461 Gonadaldysgenesiscomplete46,XY.SRYgene.CompletesequencingSanger. 45days

ICM102778 Gorlinsyndrome.PTCH1gene.Deletions-duplications(MLPA). 30days

ICM102328 Gorlinsyndrome.PTCH1gene(PTCH).CompletesequencingSanger. 45days

ICM102031 GPR156gene.CompletesequencingSanger. 45days

ICM102018 Greigsyndrome.GeneGLI3.CompletesequencingSanger. 45days

ICM102703 Greigsyndrome.GeneGLI3.Deletions-duplications(MLPA). 30days

ICM101339 Griscellisyndrometype1.GeneMYO5A 45days

ICM101340 Griscellisyndrometype2GeneRAB27A 45days

ICM101341 Griscellisyndrometype3GeneMLPH 45days

ICM100129 Gyrateatrophyofthechoroidandretina.Ornithineaminotransferasedeficit.GeneOAT 45days

ICM102694 HaemophiliaA.FVIIIGen.Deletions-duplications(MLPA). 30days

ICM100664 HaemophiliaA.GeneF8 45days

ICM100667 HaemophiliaB.GeneF9 45days

ICM101518 Hand-footsyndrome-genital.GeneHOXA13 45days

ICM100734 Harlequinichthyosis.GeneABCA12 45days

ICM101345 Hay-Wellssyndrome;AECsyndrome.TP63gene 45days

ICM102936 HBVHepatitisBviralDNAqualitative. 10days

ICM102937 HBVHepatitisBviralDNAquantitative. 10days

ICM102939 HCVRNAHepatitisCgenotypeRNA 10days

ICM102938 HCVRNAQuantificationHepatitisC 10days

ICM100657 Hemidisplasiawithcongenitalichthyosiformerythrodermaandlimbdefects.GeneNSDHL 45days

ICM102639 Hemiplegicmigrainetype1.GeneCACNA1A.Deletions-duplications(MLPA). 30days

ICM102433 Hemochromatosistype4.GeneSLC40A1.CompletesequencingSanger. 45days

ICM100663 Hemochromatosis.HFEgene 45days

ICM100793 Hemophagocyticlymphohistiocytosisfamiliartype2.GenePRF1 45days

ICM100795 Hemophagocyticlymphohistiocytosisfamilytype4.GeneSTX11 45days

ICM100796 Hemophagocyticlymphohistiocytosisfamilytype5.GeneSTXBP2 45days

ICM100569 Hepaticveno-occlusivediseasewithimmunodeficiency.GeneSP110 45days

ICM102940 HepatitisDHDVRNAQuantification 10days

ICM101194 Hepatoerythropoieticporphyria.GeneUROD 45days

ICM102397 Hereditaryangioedematype1.GeneSERPING1(C1NH).CompletesequencingSanger. 45days

ICM102796 Hereditaryangioedema.GeneSERPING1.Deletions-duplications(MLPA). 30days

ICM102110 Hereditarycavernousmalformationcerebraltype1.GeneKRIT1(CCM1).CompletesequencingSanger. 45days



ICMcode Pathologydefinition TATICM102726 Hereditarycerebralcavernousmalformationtype1.GeneKRIT1.Deletions-duplications(MLPA). 30days

ICM101789 Hereditarycerebralcavernousmalformationtype2.GeneCCM2.CompletesequencingSanger. 45days

ICM102266 Hereditarycerebralcavernousmalformationtype3.GenePDCD10(CCM3).CompletesequencingSanger. 45days

ICM102840 Hereditarycerebralcavernousmalformation.CCM2genes,PDCD10.Deletions-duplications(MLPA). 30days

ICM101854 Hereditarychronicpancreatitis.CTRCgene.CompletesequencingSanger. 45days

ICM102859 Hereditarychronicpancreatitis.GenesPRSS1,SPINK.Deletions-duplications(MLPA). 30days

ICM100789 Hereditarydiffuseleukoencephalopathywithspheroids.GeneCSF1R 45days

ICM102512 Hereditarydyshormonogenesisthyroid2A.TPOgene.CompletesequencingSanger. 45days

ICM100658 HereditaryhemochromatosisassociatedtoHFE.HFEgene 45days

ICM100659 HereditaryhemochromatosisassociatedwithTRF2.GeneTFR2 45days

ICM100660 HereditaryhemochromatosisrelatedjuvenileHAMP.HAMPgene 45days

ICM100661 HereditaryhemochromatosisrelatedtoHFE2.GeneHFE2 45days

ICM102049 Hereditaryhemochromatosistype2.GeneHJV.CompletesequencingSanger. 45days

ICM101539 HereditaryhemorrhagictelangiectasiaassociatedwithACVRL1.GeneACVRL1 45days

ICM101541 HereditaryhemorrhagictelangiectasiaassociatedwithENG.GeneENG 45days

ICM101543 HereditaryhemorrhagictelangiectasiaassociatedwithSmad4.GeneSMAD4 45days

ICM101687 HereditaryhemorrhagictelangiectasiatypeII.ACVRL1gene(ALK1).CompletesequencingSanger. 45days

ICM101912 Hereditaryhemorrhagictelangiectasia:Rendu-Osler-Weberdisease.ENGgene.CompletesequencingSanger. 45days

ICM102844 Hereditaryhemorrhagictelangiectasia:Rendu-Osler-Weberdisease.GenesENG,ACVRL1.(MLPA). 30days

ICM102806 Hereditaryhemorrhagictelangiectasia:Rendu-Osler-Weberdisease.SMAD4gene.(MLPA). 30days

ICM102019 Hereditaryhyperekplexia.GeneGLRA1.CompletesequencingSanger. 45days

ICM102704 Hereditaryhyperekplexia.GeneGLRA1.Deletions-duplications(MLPA). 30days

ICM102020 Hereditaryhyperekplexia.GeneGLRB.CompletesequencingSanger. 45days

ICM102437 Hereditaryhyperekplexia.SLC6A5gene.CompletesequencingSanger. 45days

ICM102352 Hereditarymedullarythyroidcarcinoma.RETgene.CompletesequencingSanger. 45days

ICM102350 Hereditarymedullarythyroidcarcinoma.RETgene.Exons10and11. 20days

ICM102349 Hereditarymedullarythyroidcarcinoma.RETgene.Exons10,11,3-16. 30days

ICM102351 Hereditarymedullarythyroidcarcinoma.RETgene.Exons13-16. 25days

ICM100937 Hereditarymotorandsensoryneuropathywithagenesisofthecorpuscallosum.SLC12A6gene 45days

ICM101851 Hereditaryneutrophilia.CSF3Rgene.CompletesequencingSanger. 45days

ICM102636 Hereditarynonpolyposiccoloncancer.GeneBMPR1A.Deletions-duplications(MLPA). 30days

ICM102291 Hereditarynonpolyposiccoloncancer.GenePMS1.CompletesequencingSanger. 45days

ICM102292 Hereditarynonpolyposiccoloncancer.PMS2gene.CompletesequencingSanger. 45days

ICM102773 Hereditarynonpolyposiccoloncancer.PMS2gene.Deletions-duplications(MLPA). 30days

ICM102168 Hereditarynonpolyposiscoloncancer(HNPCC).MSH2gene.CompletesequencingSanger. 45days

ICM102169 Hereditarynonpolyposiscoloncancer(HNPCC).MSH6gene.CompletesequencingSanger. 45days

ICM102161 Hereditarynonpolyposiscoloncancer.MLH1gene.CompletesequencingSanger. 45days

ICM100424 HereditarysensitivedystoniasecondarytoL-dopaGTPcyclohydrolasedeficit1.GeneGCH1 45days

ICM100927 HereditarysensoryautonomicneuropathytypeIA.GeneSPTLC1 45days

ICM100928 HereditarysensoryautonomicneuropathytypeIC.GeneSPTLC2 45days

ICM100929 HereditarysensoryautonomicneuropathytypeID.GeneATL1 45days

ICM100930 HereditarysensoryautonomicneuropathytypeIIA.GeneWNK1 45days

ICM100931 hereditarysensoryautonomicneuropathytypeIIB.GeneFAM134B 45days

ICM100932 HereditarysensoryautonomicneuropathytypeIIC.GeneKIF1A 45days

ICM100933 HereditarysensoryautonomicneuropathytypeIV.GeneNTRK1 45days

ICM100934 HereditarysensoryautonomicneuropathytypeV.NGFgene 45days

ICM100935 HereditarysensoryautonomicneuropathytypeVI.GeneDST 45days



ICMcode Pathologydefinition TATICM102453 HereditaryspasticparaplegiaARtype7.hereditarySPG7Gen.CompletesequencingSanger. 45days

ICM101913 Hereditaryspherocytosis.GeneEPB42.CompletesequencingSanger. 45days

ICM102456 Hereditaryspherocytosis.GeneSPTB.CompletesequencingSanger. 45days

ICM101346 Hermansky-Pudlaksyndrometype1.GeneHPS1 45days

ICM101347 Hermansky-Pudlaksyndrometype2.GeneAP3B1 45days





ICM101352 Hermansky-Pudlaksyndrometype7.GeneDTNBP1 45days

ICM101353 Hermansky-Pudlaksyndrometype8.GeneBLOC1S3 45days

ICM101354 Hermansky-Pudlaksyndrometype9.GeneBLOC1S6 45days

ICM102888 HerpesDNAdetection.(HSV-1,2). 10days

ICM102889 HerpesDNAdetection.(HSV-8). 10days

ICM100669 Heteroplasiaprogressivebone.GeneGNAS 45days

ICM102046 HFEhemochromatosistype1gene.C282Y;H63D;S65C. 15days

ICM100390 Hidroticectodermaldysplasiatype2.GeneGJB6 45days

ICM101355 HiperIgEsyndromeautosomaldominant.STAT3gene 45days

ICM102673 HiperIgEsyndrome,AR.GeneDOCK8.Deletions-duplications(MLPA). 30days

ICM102842 HiperIgE.GenesDOCK8,STAT3.Deletions-duplications(MLPA). 30days

ICM100735 Hipotricosisichthyosiswithautosomalrecessive.ST14gene 45days

ICM100510 Hirschsprungdiseasetype2GeneEDNRB 45days

ICM100511 Hirschsprungdiseasetype3GeneGDNF 45days

ICM100512 Hirschsprungdiseasetype4GeneEDN3 45days

ICM100509 Hirschsprungdiseasewithheartdefectsandautonomicdysfunction.GeneECE1 45days

ICM101897 Hirschsprung'sdisease.GeneEDNRB.CompletesequencingSanger. 45days

ICM100713 Histidinemia.HALgene 45days

ICM102410 Holoprosencephalynon-syndromic.SHHgene.CompletesequencingSanger. 45days

ICM100715 HoloprosencephalyrelatedtoFGF8.FGF8gene 45days

ICM100720 Holoprosencephalytype10.GeneDISP1 45days

ICM100721 Holoprosencephalytype11.GeneCDON 45days

ICM100722 Holoprosencephalytype2.GeneSIX3 45days

ICM100723 Holoprosencephalytype3.GeneSHH 45days

ICM100724 Holoprosencephalytype4.GeneTGIF1 45days

ICM100725 Holoprosencephalytype5.GeneZIC2 45days

ICM100726 Holoprosencephalytype7.GenePTCH1 45days

ICM100727 Holoprosencephalytype9.GeneGLI2 45days

ICM102862 Holoprosencephaly.GenesSHH,SONICHEDGEHOG.Deletions-duplications(MLPA). 30days

ICM102475 Holt-Oramsyndrome.GeneTBX5.CompletesequencingSanger. 45days

ICM102821 Holt-Oramsyndrome.GeneTBX5.Deletions-duplications(MLPA). 30days

ICM100729 Homocystinuriadeficitcystathioninebeta-synthase.CBSgene 45days

ICM100730 HomocystinuriaduetoMTHFRdeficit.MTHFRgene 45days

ICM100733 Homocystinuria-typeCblGmegaloblasticanemia.GeneMTR 45days

ICM101788 Homocystinuria,cistationinadeficitbeta-synthase.CBSgene.CompletesequencingSanger. 45days

ICM102008 Hormonedeficiencygrowth.GH1gene.CompletesequencingSanger. 45days

ICM102698 Hormonedeficiencygrowth.GH1gene.Deletions-duplications(MLPA). 30days

ICM102069 Huntington'sdisease.HTTgene(HD).CAGexpansion. 30days



ICMcode Pathologydefinition TATICM102183 HyperIgDsyndrome.MVKgene.CompletesequencingSanger. 45days

ICM102462 HyperIgEsyndrome.STAT3gene.CompletesequencingSanger. 45days

ICM102816 HyperIgEsyndrome.STAT3gene.Deletions-duplications(MLPA). 30days

ICM101790 HyperIgMsyndrometype3.GeneCD40.CompletesequencingSanger. 45days

ICM102540 HyperIgMsyndrometype5.GeneUNG.CompletesequencingSanger. 45days

ICM101791 HyperIgMsyndromeX-linked.GeneCD40LG(TNFSF5).CompletesequencingSanger. 45days

ICM101694 HyperIgMtype2syndrome.GeneAICDA.CompletesequencingSanger. 45days

ICM102440Hyperbilirubinemia,Rotortype.GeneSLCO1B1.Rs4149056polymorphisms(Val174Ala);rs2306283(Asp130Asn).

25days

ICM101786 Hypercalcemiafamilyhypocalciuric.CASRgene.CompletesequencingSanger. 45days

ICM102641 Hypercalcemiafamilyhypocalciuric.CASRgene.Deletions-duplications(MLPA). 30days

ICM101979 Hyperferritinemiawithorwithoutcataracts.FTLgene.CompletesequencingSanger. 45days

ICM102722 Hyperinsulinemia-familyhypoglycemia,type2.GeneKCNJ11.Deletions-duplications(MLPA). 30days

ICM102021 Hyperinsulinism-hyperammonemiasyndrome.GeneGLUD1.CompletesequencingSanger. 45days

ICM101143 Hyperkalemicperiodicparalysistype1.GeneSCN4A 45days

ICM102139 Hyperlipoproteinemiatypes1and5:lipoproteinlipasedeficiency.LPLgene.CompletesequencingSanger. 45days

ICM102733 Hyperlipoproteinemiatypes1and5:lipoproteinlipasedeficiency.LPLgene.Deletions-duplications(MLPA). 30days

ICM102138 Hyperlipoproteinemiatypes1and5:lipoproteinlipasedeficiency.LPLgene.G188Emutation. 15days

ICM100671 Hypermethioninemia.GeneMAT1A 45days

ICM101357 Hyperornithinemia-hyperammonemiasyndrome-homocitrullinuria.GeneSLC25A15 45days

ICM101510 Hyperornithinemia-hyperammonemiasyndrome-homocitrullinuria.GeneSLC25A15 45days

ICM101792 Hyperparathyroidism.CDC73gene(HRPT2).CompletesequencingSanger. 45days

ICM100677 HyperprolinaemiatypeI.GenePRODH 45days

ICM100678 HyperprolinaemiatypeII.GeneALDH4A1 45days

ICM102865 Hypertrophiccardiomyopathy.GenesTNNT2,BAG3.Deletions-duplications(MLPA). 30days

ICM100681 Hypochondroplasia.FGFR3gene 45days

ICM100684 Hypogonadotropichypogonadismtype10.GeneTAC3 45days

ICM100685 Hypogonadotropichypogonadismtype11.GeneTACR3 45days

ICM100686 Hypogonadotropichypogonadismtype12.GeneGNRH1 45days

ICM102104 Hypogonadotropichypogonadismtype13withorwithoutanosmia.GeneKISS1.CompletesequencingSanger. 35days

ICM100687 Hypogonadotropichypogonadismtype13.GeneKISS1 45days

ICM100688 Hypogonadotropichypogonadismtype14.GeneWDR11 45days

ICM100689 Hypogonadotropichypogonadismtype17.GeneSPRY4 45days

ICM100690 Hypogonadotropichypogonadismtype18.GeneIL17RD 45days

ICM100691 Hypogonadotropichypogonadismtype19.Genedusp6 45days

ICM100692 Hypogonadotropichypogonadismtype20.GeneFGF17 45days

ICM100693 Hypogonadotropichypogonadismtype21.GeneFLRT3 45days

ICM100694 Hypogonadotropichypogonadismtype7.GeneGnRHR 45days

ICM102105Hypogonadotropichypogonadismtype8withorwithoutanosmia.KISS1Rgene(GPR54).CompletesequencingSanger

45days

ICM100695 Hypogonadotropichypogonadismtype8.GeneKISS1R 45days

ICM102316Hypogonadotropichypogonadismwithorwithoutanosmiatype3.GenePROKR2.CompletesequencingSanger. 45days

ICM102315 Hypogonadotropichypogonadismwithorwithoutanosmiatype4.GenePROK2.CompletesequencingSanger. 45days

ICM102024 Hypogonadotropichypogonadismwithorwithoutanosmiatype7.GeneGNRHR.CompletesequencingSanger 45days

ICM101387 Hypogonadotropichypogonadism.Kallmannsyndrometype1.GeneKAL1 45days

ICM101388 Hypogonadotropichypogonadism.Kallmannsyndrometype2GeneFGFR1 45days

ICM101389 Hypogonadotropichypogonadism.Kallmannsyndrometype3GenePROKR2 45days

ICM101390 Hypogonadotropichypogonadism.Kallmannsyndrometype4GenePROK2 45days



ICMcode Pathologydefinition TATICM101391 Hypogonadotropichypogonadism.Kallmannsyndrometype5.GeneCHD7 45days

ICM101392 Hypogonadotropichypogonadism.Kallmannsyndrometype6.GeneFGF8 45days

ICM102130 Hypogonadotropichypogonadism.LHBgene.CompletesequencingSanger. 45days

ICM100391 Hypohidroticautosomalectodermaldysplasia.EDARgene,EDARADD 45days

ICM100392 HypohidroticX-linkedectodermaldysplasia.GeneEDA 45days

ICM100696 Hypomyelinationandcongenitalcataract.GeneFAM126A 45days

ICM100682 Hypophosphatasia.GeneALPL 45days

ICM101212 Hypophosphatemicricketsautosomalrecessive1.GeneDMP1 45days

ICM101213 Hypophosphatemicricketsautosomalrecessive2.GeneENPP1 45days

ICM101214 Hypophosphatemicricketswithhypercalciuria.SLC34A3gene 45days

ICM101358 Hypoplasiaandaplasiasyndromeinpelvisandextremities.GeneWNT7A 45days

ICM102524 Hypothyroidismfamiliartype1.GeneTSHR.CompletesequencingSanger. 45days

ICM102523 Hypothyroidismfamiliartype4.GeneTSHB.CompletesequencingSanger. 45days

ICM100306 Ideficitcarbamoylphosphatesynthetase.CPS1gene 45days

ICM102115 Ichthyosisepidermolyticsurface.GeneKRT2.CompletesequencingSanger. 45days

ICM100741 Ichthyosisvulgaris.FLGgene 45days

ICM102383 Idiopathicbronchiectasis.GeneSCNN1A.CompletesequencingSanger. 45days

ICM102805 Idiopathicgeneralizedepilepsy(deficitGlut-1).SLC2A1gene.Deletions-duplications(MLPA). 30days

ICM102232 Idiopathicnephroticsyndrome.GeneNPHS2.CompletesequencingSanger. 45days

ICM102143 IFAPsyndrome.GeneMBTPS2.CompletesequencingSanger. 45days

ICM101680 Imatinibresistance.ABLgene.Frequentmutations 30days

ICM100744 Immunodeficiency17.GeneCD3G 45days

ICM100745 Immunodeficiency18.GeneCD3E 45days

ICM100746 Immunodeficiency19.GeneCD3D 45days

ICM102696 Immunodeficiency21.GATA2Gen.Deletions-duplications(MLPA). 30days

ICM100747 Immunodeficiency8.GeneCORO1A 45days

ICM102653 Imperfectosteogenesis.COL1A1gene.Deletions-duplications(MLPA). 30days

ICM102655 Imperfectosteogenesis.COL1A2gene.Deletions-duplications(MLPA). 30days

ICM100858 Inclusionbodymyopathy,Paget'sdiseaseofboneandfrontotemporaldementia.VCPgene 45days

ICM100742 Incontinentpigmenti.GeneIKBKG 45days

ICM101333 InfantilespasmsyndromeX-linkedgene1.ARX 45days

ICM101334 InfantilespasmsyndromeX-linkedgene2.CDKL5 45days

ICM100135 InfantilespinalmuscularatrophyX-linked.GeneUBA1 45days

ICM102078 Insulinresistance.GeneINSR.CompletesequencingSanger. 45days

ICM102713 IntellectualdeficitX-linkedtype21.GeneIL1RAPL1.Deletions-duplications(MLPA). 30days

ICM101745 Intrahepaticcholestasisfamilytype.ATP8B1gene(FIC1).CompletesequencingSanger. 45days

ICM101676 Intrahepaticcholestasisfamily.ABCB11gene(BSEP).CompletesequencingSanger. 45days

ICM102615 Intrahepaticcholestasisfamily.GeneABCB4.Deletions-duplications(MLPA). 30days

ICM101649 InvestmentMYH11/CBFB.inv(16)(p13q22)ort(16;16).Qualitative. 15days

ICM101650 InvestmentMYH11/CBFB.inv(16)(p13q22)ort(16;16).Quantitative. 15days

ICM101651 InvestmentTCRA/TCL1.inv(14)(q11q32)ort(14;14).Qualitative. 15days

ICM102089Isolatedarrhythmogenicventriculardysplasiapredominantlyrightfamily.JUPgene.CompletesequencingSanger.

45days

ICM102483 Isolatedarrhythmogenicventriculardysplasiapredominantlyright.GeneTGFB3.CompletesequencingSanger. 45days

ICM100830 Isolatedmicrophthalmiatype3.GeneRAX 45days

ICM100831 Isolatedmicrophthalmiatype4.GeneGDF6 45days

ICM100015 Isovalericacidemia.IVDgene 45days

ICM101364 JohansonBlizzardsyndrome.GeneUBR1 45days



ICMcode Pathologydefinition TATICM102228 Joubert/familialjuvenilenephronophthisissyndrome.GeneNPHP1.CompletesequencingSanger. 45days

ICM101365 JoubertsyndromerelatedtoTCTN2.GeneTCTN2 45days

ICM101366 Joubertsyndrometype1.GeneINPP5E 45days

ICM101367 Joubertsyndrometype10.GeneOFD1 45days

ICM101368 Joubertsyndrometype11.GeneTTC21B 45days

ICM101369 Joubertsyndrometype12.GeneKIF7 45days

ICM101370 Joubertsyndrometype13.GeneTCTN1 45days

ICM101371 Joubertsyndrometype14.GeneTMEM237 45days

ICM101372 Joubertsyndrometype15.GeneCEP41 45days


ICM101374 Joubertsyndrometype17.GeneC5orf42 45days

ICM101375 Joubertsyndrometype18GeneTCTN3 45days

ICM101376 Joubertsyndrometype19.GeneZNF423 45days

ICM101377 Joubertsyndrometype2GeneTMEM216 45days


ICM101379 Joubertsyndrometype3GeneAHI1 45days

ICM101380 Joubertsyndrometype4GeneNPHP1 45days

ICM101381 Joubertsyndrometype5.GeneCEP290 45days


ICM101383 Joubertsyndrometype7.GeneRPGRIP1L 45days

ICM101384 Joubertsyndrometype8.GeneARL13B 45days

ICM101385 Joubertsyndrometype9.GeneCC2D2A 45days

ICM102077 Joubertsyndrome,type1.GeneINPP5E.CompletesequencingSanger. 45days

ICM101693 Joubertsyndrome,type3GeneAHI1.CompletesequencingSanger. 45days

ICM101723 Joubertsyndrome,type8.GeneARL13B.CompletesequencingSanger. 45days

ICM101386 Joubertsyndrome.TMEM67gene 45days

ICM100577 JunctionalepidermolysisbullousrelatedtoCOL17A1.GeneCOL17A1 45days

ICM100580 JunctionalepidermolysisbullousrelatedtoLAMA3.GeneLAMA3 45days

ICM100581 JunctionalepidermolysisbullousrelatedtoLAMB3.GeneLAMB3 45days

ICM100584 JunctionalepidermolysisbullousrelatedtoLAMC2.GeneLAMC2 45days

ICM101898 Juvenileabsenceepilepsytype1.GeneEFHC1.CompletesequencingSanger. 45days

ICM102724 Kabukisyndrome.GeneKDM6A.Deletions-duplications(MLPA). 30days

ICM102725 Kabukisyndrome.GeneKMT2D.Deletions-duplications(MLPA). 30days

ICM102623 Kallmannsyndrome.GeneYEARS1.Deletions-duplications(MLPA). 30days

ICM102473 Kenny-Caffeysyndrome.GeneTBCE.CompletesequencingSanger. 45days

ICM102549 Keratoconustype1.GeneVSX1.CompletesequencingSanger. 45days

ICM101944 Kindlersyndrome.FERMT1gene(KIND1).CompletesequencingSanger. 45days

ICM102322 Kinesigenicparoxysmaldyskinesia.GenePRRT2.CompletesequencingSanger. 45days

ICM102677 Kleefstrasyndrome.GeneEHMT1.Deletions-duplications(MLPA). 30days

ICM102005 Klippel-Feilsyndrometype1.GeneGDF6.CompletesequencingSanger. 45days

ICM100207 Korea-acanthocytosis.GeneVPS13A 45days

ICM100515 Krabbedisease.GeneGALC 45days

ICM100025 LacticAcidosischildlethal.GeneSUCLG1 45days

ICM102148 Lactoseintolerance.GeneMCM6.CompletesequencingSanger. 45days

ICM100866 Laingdistalmyopathy.GeneMYH7 45days

ICM100739 Lamellarichthyosis.GeneTGM1 45days

ICM102009 Laronsyndrome.GHRgene.CompletesequencingSanger. 45days



ICMcode Pathologydefinition TATICM102691 Larsensyndrome.GeneFLNB.Deletions-duplications(MLPA). 30days

ICM102345 Lebercongenitalamaurosistype13.GeneRDH12.CompletesequencingSanger. 45days

ICM101848 Lebercongenitalamaurosistype7.GeneCRX.CompletesequencingSanger. 45days

ICM102034 LeberCongenitalAmaurosis.GeneGUCY2D.CompletesequencingSanger. 45days

ICM102363 Lebercongenitalamaurosis.GeneRPGRIP1.CompletesequencingSanger. 45days

ICM102851 LeberCongenitalAmaurosis.GenesGUCY2D,RDH12,RPGRIP1,CEP2909.Deletions-duplications(MLPA). 30days

ICM102361 Lebercongenitalamaurosis.RPE65gene.CompletesequencingSanger. 45days

ICM102173 Leber'shereditaryopticneuropathy.MT-COIgene.MutationsT7445C;A7443G;T7472insC;T7511C. 20days

ICM102174 Leber'shereditaryopticneuropathy.MT-CYBgene.CompletesequencingSanger. 45days

ICM102179 Leber'shereditaryopticneuropathy.MTND5gene(MTND5).CompletesequencingSanger. 25days

ICM101889 Leftventricularnoncompaction.GeneDTNA.CompletesequencingSanger. 45days

ICM102973 Leftventricularnon-compaction.GeneTAZ. 45days

ICM102657 Legg-Calve-Perthes'sdisease.COL2A1gene.Deletions-duplications(MLPA). 30days

ICM102455 Legiussyndrome.GeneSPRED1.CompletesequencingSanger. 45days

ICM102814 Legiussyndrome.GeneSPRED1.Deletions-duplications(MLPA). 30days

ICM102469 Leighsyndrome,COXdeficit.GeneSURF1.CompletesequencingSanger. 45days

ICM101840 Leighsyndrome.GeneCOX15.CompletesequencingSanger. 45days

ICM102200 Leighsyndrome.GeneNDUFA2.CompletesequencingSanger. 45days

ICM102201 Leighsyndrome.NDUFAF2gene(B17.2L).CompletesequencingSanger. 45days

ICM101416 LenzMicrophthalmiasyndrome.GeneBCOR 45days

ICM101398 Lenzsyndrome;Microphthalmia.GeneBCOR 45days

ICM101396 LEOPARDsyndrometype1.Lentigosmultipletype2.GeneRAF1 45days

ICM101395 LEOPARDsyndrometype1.Lentigosmultipletype1.GenePTPN11 45days

ICM101397 LEOPARDsyndrometype1.Lentigosmultipletype3.GeneBRAF 45days

ICM102411 Leri-Weillsyndrome.SHOXgene.CompletesequencingSanger. 45days

ICM102802 Leri-Weillsyndrome.SHOXgene.Deletions-duplications(MLPA). 30days

ICM102058 Lesch-Nyhansyndrome.GeneHPRT1.CompletesequencingSanger. 45days

ICM100787 Leukoencephalopathywithinvolvementofbrainstemandspinalcordandlactateelevation.GeneDARS2 45days

ICM100786 Leukoencephalopathywithinvolvementofthethalamusandbrainstemandelevatedlactate.GeneEARS2 45days

ICM101902 Leukoencephalopathy.GeneEIF2B1.CompletesequencingSanger. 45days





ICM102444 Lewybodydementia.SNCAgene.CompletesequencingSanger. 45days

ICM102810 Lewybodydementia.SNCAgene.Deletions-duplications(MLPA). 30days

ICM102131 LeydigcellhypoplasiaresistancetoLH.GeneLHCGR.CompletesequencingSanger. 45days

ICM102647 Li-Fraumenisyndrometype2.CHEK2gene.Deletions-duplications(MLPA). 30days

ICM101807 Li-Fraumenitype2syndrome.CHEK2gene.CompletesequencingSanger. 45days

ICM102384 Liddlesyndrome.GeneSCNN1B.CompletesequencingSanger. 45days

ICM102385 Liddlesyndrome.GeneSCNN1G.CompletesequencingSanger. 45days

ICM101511 LIG4syndrome.GeneLIG4 45days

ICM101878 Lipoamidadehydrogenasedeficiency.DLDgene.CompletesequencingSanger. 45days

ICM101729 LipogranulomatosisFarber.GeneASAH1.CompletesequencingSanger. 45days

ICM102254 Lissencephalytype1.GenePAFAH1B1.CompletesequencingSanger. 45days

ICM102757 Lissencephalytype1.GenePAFAH1B1.Deletions-duplications(MLPA). 30days

ICM102529 Lissencephalytype3.GeneTUBA1A.CompletesequencingSanger. 45days



ICMcode Pathologydefinition TATICM101871 Lissencephaly,X-linkedtype1.GeneDCX.CompletesequencingSanger. 45days

ICM102668 Lissencephaly,X-linkedtype1.GeneDCX.Deletions-duplications(MLPA). 30days

ICM102864 Loeys-Dietzsyndrometype1.GenesTGFBR1,TGFBR2.Deletions-duplications(MLPA). 30days

ICM101400 Loeys-Dietzsyndrome,type1A.GeneTGFBR1 45days

ICM101401 Loeys-Dietzsyndrome,type1B.GeneTGFBR2 45days

ICM101402 Loeys-Dietzsyndrome,type2B.GeneTGFBR2 45days

ICM101403 Loeys-Dietzsyndrome,type3.GeneSMAD3 45days

ICM101404 Loeys-Dietzsyndrome,type4GeneTGFB2 45days

ICM102100 LongQTsyndrometype1.KCNQ1gene(KVLQT1).CompletesequencingSanger. 45days

ICM102382 LongQTsyndrometype3.SCN5Agene.CompletesequencingSanger. 45days

ICM102793 LongQTsyndrometype3.SCN5Agene.Deletions-duplications(MLPA). 30days

ICM102095 LongQTtype2syndrome.GeneKCNH2.CompletesequencingSanger. 45days

ICM102093 LongQTtype5syndrome.KCNE1gene.CompletesequencingSanger. 45days

ICM102094 LongQTtype6syndrome.GeneKCNE2.CompletesequencingSanger. 45days

ICM102244 Lowesyndrome.GeneOCRL.CompletesequencingSanger. 45days

ICM101900 Lungcancer.EGFRgene.Exons18-21. 30days

ICM101085 Lungcancer.Molecularcharacterization.LIQUIDBIOPSY 12days

ICM101086 Lungcancer.Molecularcharacterization.TISSUE/PARAFINA 12days

ICM102051 Lyasedeficiency(HMG-CoAsynthase).GeneHMGCL.CompletesequencingSanger. 45days

ICM101973 Lymphedema-distichiasis,syndrome.GeneFOXC2.CompletesequencingSanger. 45days

ICM101399 Lymphedema-Distichiasissyndrome.GeneFOXC2 45days

ICM100794 Lymphohistiocytosisfamilyhemophagocytictype3.GeneUNC13D 45days

ICM102308 Lymphohistiocytosisfamilyhemophagocytic.PRF1gene.CompletesequencingSanger. 45days

ICM101406 Lynchsyndrometype1.GeneMSH2 45days

ICM101407 Lynchsyndrometype2.GeneMLH1 45days

ICM101408 Lynchsyndrometype5.GeneMSH6 45days

ICM101409 Lynchsyndrometype8.GeneEPCAM 45days

ICM102123 LysosomalstorageglycogendiseasedeficitLAMP2:Danondisease. 45days

ICM102141 Lysozymeamyloidosis.GeneLYZ.CompletesequencingSanger. 45days

ICM101579 Macrothrombocytopeniaandprogressivesensorineuraldeafness.GeneMYH9 45days

ICM101813 Macularcornealdystrophy.GeneCHST6.CompletesequencingSanger. 45days

ICM102416 Maculardystrophyand/orretina.GeneSIX6.CompletesequencingSanger. 45days

ICM102321 Maculardystrophy.PRPH2gene(RDS).CompletesequencingSanger. 45days

ICM101794 Malignantmelanoma.CDK4gene.CompletesequencingSanger. 45days

ICM101817 Malignantosteopetrosischild.GeneCLCN7.CompletesequencingSanger. 45days

ICM100032 Malonicaciduriaandmethylmaloniccombined.GeneACSF3 45days

ICM100308 Malonyl-CoAdeficit.GeneMLYCD 45days

ICM102682 Marfansyndrome.FBN1gene.Deletions-duplications(MLPA). 30days

ICM101412 Marfansyndrome.GeneFBN1 45days

ICM101413 Marinesco-Sjögrensyndrome.GeneSIL1 45days

ICM102107 Mastocytosis.KITgene.D816Vmutation. 15days

ICM102106 Mastocytosis.KITgene.Exons8,11and17. 30days

ICM102977 MaternalADNexclusioninfetalsample

ICM102022 McCune-Albrightsyndrome.GNASgene.CompletesequencingSanger. 45days

ICM102159 Meckelsyndrometype1.MKS1gene(BBS13).CompletesequencingSanger. 45days

ICM102364 Meckelsyndrometype5.GeneRPGRIP1L.CompletesequencingSanger. 45days

ICM102229 Meckelsyndrometype7.GeneNPHP3.CompletesequencingSanger. 45days



ICMcode Pathologydefinition TATICM101414 Meckel-Grubersyndrometype1.GeneMKS1 45days

ICM102538 medullarycysticdiseaseAD.GeneUMOD.CompletesequencingSanger. 45days

ICM100912 Medullarycystickidneydiseasetype1.GeneMUC1 45days

ICM100913 Medullarycystickidneydiseasetype2GeneUMOD 45days

ICM100790 Megalencefálicaleukoencephalopathywithsubcorticalcyststype1.GeneMLC1 45days

ICM100791 Megalencefálicaleukoencephalopathywithsubcorticalcyststype2A.GeneHEPACAM 45days

ICM100792 Megalencefálicaleukoencephalopathywithsubcorticalcyststype2B.GeneHEPACAM 45days

ICM102160 Megalencefálicaleukoencephalopathywithsubcorticalcysts.GeneMLC1.CompletesequencingSanger. 45days

ICM100732 Megaloblasticanemiacblehomocystinuria-type.MTRRgene 45days

ICM101249 Megaloblasticanemiasyndromewithresponsetothiamine.SLC19A2gene 45days

ICM100524 Menkesdisease.GeneATP7A 45days

ICM101320 MentalretardationsyndromewithalphathalassemiaX-linked.GeneATRX 45days

ICM102401 Metabolismdeficiencyofpulmonarysurfactant.GeneSFTPC.CompletesequencingSanger. 45days

ICM100369 Metabolismdysfunctionofpulmonarysurfactanttype1.GeneSFTPB 45days

ICM100370 Metabolismdysfunctionofpulmonarysurfactanttype2GeneSFTPC 45days

ICM100371 Metabolismdysfunctionofpulmonarysurfactanttype3.GeneABCA3 45days

ICM100372 Metabolismdysfunctionofpulmonarysurfactanttype4.GeneCSF2RA 45days

ICM100373 Metabolismdysfunctionofpulmonarysurfactanttype5.GeneCSF2RB 45days

ICM100783 MetachromaticleukodystrophiedeficitsaposinB.GenePSAP 45days

ICM100782 MetachromaticleukodystrophydeficitarylsulfataseA.GeneARSA 45days

ICM101725 Metachromaticleukodystrophy.ARSAgene.CompletesequencingSanger. 45days

ICM100382 Metafisariadysplasiaautosomaldominantskull.ANKHgene 45days

ICM100383 Metafisariadysplasiaautosomaldominantskull.SOSTgene 45days

ICM102330 MetaphysealchondrodysplasiaJansentype.PTHgene.CompletesequencingSanger. 45days

ICM100197 MetaphysealchondrodysplasiaJansen.GenePTH1R 45days

ICM100198 MetaphysealchondrodysplasiaSchmid.GeneCOL10A1 45days

ICM101830 MetaphysealchondrodysplasiatypeSchmid.GeneCOL10A1.CompletesequencingSanger. 45days

ICM100016 MethylmalonicacidemiarelatedtoMCEE.GeneESCM 45days

ICM100018 MethylmalonicacidemiarelatedtoMOEF.GeneMOEF 45days

ICM100033 MethylmalonicaciduriaandhomocystinuriaCBLCtype.GeneMMACHC 45days

ICM100035 MethylmalonicaciduriaandhomocystinuriaCblDtype.GeneMMADHC 45days

ICM100037 MethylmalonicaciduriaandhomocystinuriaCblFtype.GeneLMBRD1 45days

ICM100038 MethylmalonicaciduriaandhomocystinuriaCblJtype.GeneABCD4 45days

ICM100039 MethylmalonicaciduriaandhomocystinuriaCblJtype.GeneMTR 45days

ICM100818 Microangipathybraincystsandcalcifications.GeneCTC1 45days

ICM100835 Microphthalmiacataracttype2GeneSIX6 45days

ICM100832 Microphthalmiaisolatedtype5.GeneMFRP 45days

ICM100829 Microphthalmiaisolatedtype2.GeneVSX2 45days

ICM100833 Microphthalmiaisolatedtype6.GenePRSS56 45days

ICM100834 Microphthalmiaisolatedtype7.GeneGDF3 45days

ICM100841 MicrophthalmiaNonsyndromictype11.GeneVAX1 45days

ICM100836 Microphthalmiawithcataractstype3.GeneVSX2 45days

ICM100837 Microphthalmiawithcataractstype5.GeneSHH 45days

ICM100838 Microphthalmiawithcolobomatype3.GeneVSX2 45days

ICM100839 Microphthalmiawithcolobomatype7.GeneABCB6 45days

ICM100840 Microphthalmiawithcolobomatype8.GeneSTRA6 45days

ICM100526 Milroydisease.FLT4gene 45days



ICMcode Pathologydefinition TATICM101969 Milroy'sdisease.FLT4gene.CompletesequencingSanger. 45days

ICM102191 Miotilinopathy.MYOTgene(TTID).CompletesequencingSanger. 45days

ICM102198 MitochondrialcomplexIdeficiency.GeneNDUFA1.CompletesequencingSanger. 45days

ICM102199 MitochondrialcomplexIdeficiency.GeneNDUFA11.CompletesequencingSanger. 45days

ICM102204 MitochondrialcomplexIdeficiency.GeneNDUFS1.CompletesequencingSanger. 45days

ICM102205 MitochondrialcomplexIdeficiency.GeneNdufs2.CompletesequencingSanger. 45days






ICM102211 MitochondrialcomplexIdeficiency.GeneNDUFV1.CompletesequencingSanger. 45days

ICM102212 MitochondrialcomplexIdeficiency.GeneNDUFV2.CompletesequencingSanger. 45days

ICM102202 MitochondrialcomplexIdeficiency.NDUFAF4gene(HRPAP20).CompletesequencingSanger. 45days

ICM102203 MitochondrialcomplexIdeficiency.NDUFAF5gene(C20ORF7).CompletesequencingSanger. 45days

ICM101223 Mitochondrialgenome.Completesequencing 45days

ICM100887 Mitochondrialmyopathyandsideroblasticanemia.GenePUS1 45days

ICM100017 MMYYrelatedmethylmalonicacidemia.GeneMMYY 45days

ICM100893 Modifieroculocutaneousalbinismtype2.MC1RGen 45days

ICM100860 MopathyduetodeficitISCU.GeneISCU 45days

ICM102145 Morbidobesity.MC4Rgene.CompletesequencingSanger. 45days

ICM101417 Mowat-Wilsonsyndrome.GeneZEB2 45days

ICM102836 Mowat-Wilsonsyndrome.GeneZEB2.Deletions-duplications(MLPA). 30days

ICM102072 MPS1orHurlersyndrome.GeneIDUA.CompletesequencingSanger. 45days

ICM101635 MtDNAmutationA1555G 15days

ICM101638 MTND5gene(MTND5).Mutations12770A>G;13045A>C;c.13084A>T;13513G>AY13514A>G 15days

ICM101642 MTTL1gene(MTTL1).A3243Gmutation. 25days

ICM101643 MTTL1gene(MTTL1).MutationsA3243;A3253;C3256;T3271;T3291. 20days

ICM101644 MTTL1gene(MTTL1).MutationsA3243G;C3256T;A3252G;C3093G;G3244A;T3258C;T3271C;T3291C. 20days

ICM102222 Muckle-Wellssyndrome.NLRP3gene(CIAS1).CompletesequencingSanger. 45days

ICM100895 MucolipidosesIIIAlphaandBeta.GeneGNPTAB 45days

ICM100896 MucolipidosesIIIGamma.GeneGNPTG 45days

ICM100897 MucolipidosesIV.GeneMCOLN1 45days

ICM102070 Mucopolysaccharidosis9.GeneHYAL1.CompletesequencingSanger. 45days

ICM100898 MucopolysaccharidosisES.GeneIDUA 45days

ICM100899 MucopolysaccharidosisIH.GeneIDUA 45days

ICM100900 MucopolysaccharidosisII.IDSgene 45days

ICM100901 MucopolysaccharidosisIVA.GALNSgene 45days

ICM102711 Mucopolysaccharidosistype2.GeneIDS.Deletions-duplications(MLPA). 30days

ICM101992 Mucopolysaccharidosistype4A.GALNSgene.CompletesequencingSanger. 45days

ICM100902 MucopolysaccharidosisTypeIIID.GeneGNS 45days

ICM100903 MucopolysaccharidosistypeIIIA.GeneSGSH 45days

ICM100910 MucopolysaccharidosistypeIIIB.GeneNAGLU 45days

ICM100904 MucopolysaccharidosistypeIIIC.GeneHGSNAT 45days

ICM100905 MucopolysaccharidosistypeIVB.GeneGLB1 45days

ICM100906 MucopolysaccharidosistypeV.GeneIDUA 45days

ICM100907 MucopolysaccharidosistypeVI.GeneARSB 45days



ICMcode Pathologydefinition TATICM100908 MucopolysaccharidosisVII.GeneGUSB 45days

ICM100909 Mucopolysaccharidosis.GenesIDS,GLB1(Seelysosomalstoragediseases) 45days

ICM101418 Muenkesyndrome.FGFR3gene 45days

ICM102834 Mülleraplasiahyperandrogenism.GeneWNT4.Deletions-duplications(MLPA). 30days

ICM100527 Multiminicoredisease.GenesSEPN1,RYR1 45days

ICM100329 Multiplecarboxylasedeficiency.Genehlcs 45days

ICM100914 MultipleendocrineNeoplasiatype1.MEN1Gen 45days

ICM102739 MultipleEndocrineNeoplasiatype1.MEN1gene.Deletions-duplications(MLPA). 30days

ICM100915 Multipleendocrineneoplasiatype2GeneRET 45days

ICM102781 Multipleendocrineneoplasiatype2A.RETgene.Deletions-duplications(MLPA). 30days

ICM100916 Multipleendocrineneoplasiatype4.GeneCDKN1B 45days

ICM100917 MultipleEndocrineNeoplasia.GenesMEN1,RET 45days

ICM101922 Multipleexostosis.EXT1gene.CompletesequencingSanger. 45days

ICM101923 Multipleexostosis.EXT2gene.CompletesequencingSanger. 45days

ICM102845 Multipleexostosis.GenesEXT1,EXT2.Deletions-duplications(MLPA). 30days

ICM101812 Multiplepterygiumsyndrome.GeneCHRNG.CompletesequencingSanger. 45days

ICM100330 Multiplesulfatasedeficiency.GeneSUMF1 45days

ICM100130 Muscleatrophyinthecolumn.SMN1gene 45days

ICM100679 Musclehypertrophyassociatedwithmyostatin.GeneMSTN 45days

ICM100478 MusculardystrophytypeB2-distroglicanopatía.GenePOMT2 45days

ICM100479 MusculardystrophytypeB3-distroglicanopatía.GenePOMGNT1 45days

ICM100477 Musculardystrophytype-B1distroglicanopatía.GenePOMT1 45days

ICM100475 Musculardystrophytype-distroglicanopatíaA5.GeneFKRP 45days

ICM100476 Musculardystrophytype-distroglicanopatíaA7.GeneISPD 45days

ICM100480 Musculardystrophytype-distroglicanopatíaB4.GeneFKTN 45days

ICM100481 Musculardystrophytype-distroglicanopatíaB5.GeneFKRP 45days

ICM100482 Musculardystrophytype-distroglicanopatíaB6.LARGEgene 45days

ICM100019 MUTrelatedmethylmalonicacidemia.MUTgene 45days

ICM101187 MUTYHassociatedpolyposis.GeneMUTYH 45days

ICM101645 MYD88genemutationL265Pstudy.Waldenstrommacroglobulinemia 15days

ICM102399 Myelodysplasticsyndrome.SF3B1gene.Sequencingexons13-16. 45days

ICM102086 Myeloproliferativedisorders.JAK2gene.Exon12,14(includingmut.V617F,K539LandV607N). 15days

ICM102087 Myeloproliferativedisorders.JAK2gene.Exon14(includingmut.V617F). 15days

ICM102088 Myeloproliferativedisorders.JAK2gene.V617Fmutation. 15days

ICM101782 Myeloproliferativeneoplasm.CALRgenesequencingexon9.myeloproliferativeneoplasm 15days

ICM101850 Myeloproliferativeneoplasm.CSF3Rgene.Sequencingexons14and17. 30days

ICM102085 Myeloproliferativeneoplasm.JAK2genesequencingexon12.myeloproliferativeneoplasm 15days

ICM102164 Myeloproliferativeneoplasm.MPLgene.Sequencingexon10. 15days

ICM100425 Myoclonicdystonia.GeneEQAS 45days

ICM102217 Myoclonicepilepsytype2/Laforaprogressive.GeneNHLRC1.CompletesequencingSanger. 45days

ICM101885 Myoclonicprimarydystonia.DRD2gene.CompletesequencingSanger. 45days

ICM102674 Myoclonicprimarydystonia.DRD2gene.Deletions-duplications(MLPA). 30days

ICM102405 Myoclonicprimarydystonia.GeneEQAS.CompletesequencingSanger. 45days

ICM102798 Myoclonicprimarydystonia.GeneEQAS.Deletions-duplications(MLPA). 30days

ICM100871 MyofibrillarmyopathyrelatedtoCRYAB.GeneCRYAB 45days

ICM100874 MyofibrillarmyopathyrelatedtoDNAJB6 45days

ICM100875 MyofibrillarmyopathyrelatedtoFHL1 45days



ICMcode Pathologydefinition TATICM100877 Myofibrillarmyopathytype1.GeneDES 45days

ICM100880 Myofibrillarmyopathytype3.GeneMYOT 45days

ICM100881 Myofibrillarmyopathytype4GeneLDB3 45days

ICM100884 Myofibrillarmyopathytype5.GeneCNLF 45days

ICM100885 Myofibrillarmyopathytype6.GeneBAG3 45days

ICM102787 Myopathycentralcore.RYR1gene.Deletions-duplications(MLPA). 30days

ICM100870 Myopathyhereditaryinclusionbodytype2.GeneGNE 45days

ICM102508 Myopathynemalinetype4GeneTPM2.CompletesequencingSanger. 45days

ICM100119 Myopathysensoryataxiawithepilepsy.GenePOLG 45days

ICM100890 Myotoniaaggravatedbypotassium.GeneSCN4A 45days

ICM100892 Myotoniacongenita.GeneCLCN1 45days

ICM101826 MyotonicdystrophytypeII.CNBPgene(ZNF9).CCTGexpansion. 30days

ICM102177 Myotubularmyopathy.GeneMTM1.CompletesequencingSanger. 45days

ICM102567 N-MYCFISH 15days

ICM101506 Naevoidbasalcellcarcinomasyndrome.GenePTCH1 45days

ICM101470 Nail-patellasyndrome.GeneLMX1B 45days

ICM102136 Nail-patellasyndrome.GeneLMX1B.CompletesequencingSanger. 45days

ICM100849 Nemalinemyopathytype1.GeneTPM3 45days

ICM102509 Nemalinemyopathytype1.GeneTPM3.CompletesequencingSanger. 45days

ICM100850 Nemalinemyopathytype2.GeneNEB 45days

ICM100851 Nemalinemyopathytype3.GeneACTA1 45days

ICM101684 Nemalinemyopathytype3.GeneACTA1.CompletesequencingSanger. 45days

ICM100852 Nemalinemyopathytype4.GeneTPM2 45days

ICM100853 Nemalinemyopathytype5.GeneTNNT1 45days

ICM102500 Nemalinemyopathytype5.GeneTNNT1.CompletesequencingSanger. 45days

ICM100854 Nemalinemyopathytype6.GeneKBTBD13 45days

ICM100855 Nemalinemyopathytype7.GeneCFL2 45days

ICM101802 Nemalinemyopathytype7.GeneCFL2.CompletesequencingSanger. 45days

ICM102835 NephroblastomaorWilmstumor.WT1gene.Deletions-duplications(MLPA). 30days

ICM100347 NephrogenicdiabetesinsipidusX-linked.GeneAVPR2 45days

ICM100348 Nephrogenicdiabetesinsipidus.GenesAQP2,AVPR2 45days

ICM100911 Nephrolithiasis/hypophosphatemicosteoporosistype1.GeneSLC34A1 45days

ICM101816 Nephrolithiasis:Dentdiseasetype1.GeneCLCN5.CompletesequencingSanger. 45days

ICM102750 Nephronoptisisjuveniletype1GeneNPHP1.Deletions-duplications(MLPA). 30days

ICM102230 Nephronoptisistype4.GeneNPHP4.CompletesequencingSanger. 45days

ICM102079 Nephronoptisis.GeneINVS(NPHP2).CompletesequencingSanger. 45days

ICM101419 Nethertonsyndrome.GeneSPINK5 45days

ICM102559 Neuroacanthocytosis.XKgene.CompletesequencingSanger. 45days

ICM100919 Neurodegenerationpantothenatekinasedeficit.GenePANK2 45days

ICM102769 Neurodegenerationwithbrainironaccumulation2A/2Btypes.GenePLA2G6.(MLPA). 30days

ICM102257 Neurodegenerationwithbrainironaccumulationtype1.GenePANK2.CompletesequencingSanger. 45days

ICM102284 Neurodegenerationwithbrainironaccumulationtype2A/2B.GenePLA2G6.CompletesequencingSanger. 45days

ICM101841 Neurodegenerationwithbrainironaccumulation:Aceruloplasminemia.CPgene.CompletesequencingSanger. 45days

ICM100920 Neuroferritinopatía.GeneFTL 45days

ICM100922 Neurofibromatosistype1.GeneNF1 45days

ICM102745 Neurofibromatosistype1.GeneNF1.Deletions-duplications(MLPA). 30days

ICM100924 Neurofibromatosistype2.NF2gene 45days



ICMcode Pathologydefinition TATICM102746 Neurofibromatosistype2.NF2gene.Deletions-duplications(MLPA). 30days

ICM100803 NeuronalCeroidLipofuscinosis-1.GenePPT1 45days

ICM100804 NeuronalCeroidLipofuscinosis-10.GeneCTSD 45days

ICM100805 NeuronalCeroidLipofuscinosis-11.GRNgene 45days

ICM100806 NeuronalCeroidLipofuscinosis-12.GeneATP13A2 45days

ICM100807 Neuronalceroidlipofuscinosis-13.GeneCTSF 45days

ICM100808 Neuronalceroidlipofuscinosis-14.GeneKCTD7 45days

ICM100809 NeuronalCeroidLipofuscinosis-2.GeneTPP1 45days

ICM100810 NeuronalCeroidLipofuscinosis-3.GeneCLN3 45days

ICM100811 Neuronalceroidlipofuscinosis-4A.GeneCLN6 45days

ICM100812 Neuronalceroidlipofuscinosis-5.GeneCLN5 45days


ICM100814 NeuronalCeroidLipofuscinosis-7.GeneMFSD8 45days


ICM101421 Neuronopathysyndromeoptical-deafness-dystonia.GeneTIMM8A 45days

ICM102172 Neuropathywithataxiaandretinitispigmentosa,NARP.GeneMTATP6.CompletesequencingSanger. 45days

ICM102171 Neuropathywithataxiaandretinitispigmentosa,NARP.GeneMTATP6.MutationsT8993G;T8993C. 15days

ICM102170 Neuropathywithataxiaandretinitispigmentosa,NARP.GeneMTATP6.T8993Gmutation. 15days

ICM102683 Neutropenianeonatalalloimmune.GeneFCGR3B.Deletions-duplications(MLPA). 30days

ICM102038 Neutropeniaseverecongenitaltype3.GeneHAX1AR.CompletesequencingSanger. 45days

ICM100528 Niemann-PickdiseaseA.GeneSMPD1 45days

ICM100529 Niemann-PickdiseaseB.GeneSMPD1 45days

ICM100530 Niemann-PickdiseasetypeC1.NPC1gene 45days

ICM100531 Niemann-PickdiseasetypeC2.GeneNPC2 45days

ICM102855 Niemann-PicktypesA,BandC.GenesNPC1,NPC2,SMPD1.Deletions-duplications(MLPA). 30days

ICM101422 Nijmegenesyndrome.GeneNBN 45days

ICM100718 NODALrelatedholoprosencephaly.NODALgene 45days

ICM101576 Nonsyndromicmicrophthalmiatype3.EyedisordersrelatedtoSOX2.SOX2gene 45days

ICM102293 Nonalcoholicfattyliverdisease.GenePNPLA3.CompletesequencingSanger. 45days

ICM100842 Nonsyndromicmicrophthalmiatype2GeneBCOR 45days

ICM100845 Nonsyndromicmicrophthalmiatype5.GeneOTX2 45days

ICM100846 Nonsyndromicmicrophthalmiatype6.GeneBMP4 45days

ICM100847 Nonsyndromicmicrophthalmiatype7.GeneHCCS 45days

ICM100848 Nonsyndromicmicrophthalmiatype9.GeneSTRA6 45days

ICM101424 Noonansyndrometype1.GenePTPN11 45days

ICM101425 Noonansyndrometype3.GeneKRAS 45days

ICM101426 Noonansyndrometype4GeneSOS1 45days

ICM101427 Noonansyndrometype5.GeneRAF1 45days

ICM101428 Noonansyndrometype6.GeneNRAS 45days

ICM101429 Noonansyndrometype7.GenBRAF 45days

ICM100533 Norriedisease.NDPgene 45days

ICM102196 Norrie'sdisease.NDPgene.CompletesequencingSanger. 45days

ICM101849 Nuclearcataracttype23.GeneCRYAB.CompletesequencingSanger. 45days

ICM102303 Obesity.GenePPARG.CompletesequencingSanger. 45days

ICM101507 Occipitalhornsyndrome.GeneATP7A 45days

ICM102708 Ocularalbinismtype1.GeneGPR143.Deletions-duplications(MLPA). 30days

ICM100054 OcularalbinismX-linked.GeneGPR143 45days



ICMcode Pathologydefinition TATICM100053 Oculocutaneousalbinismtype1GeneTYR 45days

ICM102829 Oculocutaneousalbinismtype1.GeneTYR.Deletions-duplications(MLPA). 30days

ICM100055 Oculocutaneousalbinismtype2.GeneOCA2 45days

ICM102754 Oculocutaneousalbinismtype2.OCA2gene.Deletions-duplications(MLPA). 30days

ICM100056 Oculocutaneousalbinismtype3.GeneTYRP1 45days

ICM100057 Oculocutaneousalbinismtype4.GeneSLC45A2 45days

ICM100058 Oculocutaneousalbinismtype6.GeneSLC24A5 45days

ICM100414 Oculodentodigitaldysplasia.GeneGJA1 45days

ICM102253 Oculopharyngealmusculardystrophy.GenePABPN1.CGCexpansion. 30days

ICM102740 OpitzG/BBBX-linkedsyndrome.GeneMID1.Deletions-duplications(MLPA). 30days

ICM101532 Oral-facio-digitalsyndrome.GeneOFD1 45days

ICM100310 Ornithineaminotransferasedeficiency.GeneOAT 45days

ICM102756 Ornithinecarbamoyltransferasedeficit.OTCgene.Deletions-duplications(MLPA). 30days

ICM100312 Ornithinetranscarbamylasedeficiency.GeneOAT 45days

ICM100311 Ornithinetranscarbamylasedeficiency.OTCgene 45days

ICM102245 Orofaciodigitaltype1syndrome.GeneOFD1.CompletesequencingSanger. 45days

ICM102539 Oroticaciduria.UMPSgene.CompletesequencingSanger. 45days

ICM102514OsteodysplasialipomembranousPolycystic;leudoencephalopathysclerosing:Nasu-Hakoladisease.GeneTREM2

45days

ICM102533OsteodysplasialipomembranousPolycystic;leudoencephalopathysclerosing:Nasu-Hakoladisease.TYROBPgene(DAP12)

45days

ICM100945 OsteogenesisImperfectaTypeIX.GeneBIPPs 45days

ICM100950 OsteogenesisImperfectatypeSERPINH1.GeneX. 45days

ICM100946 OsteogenesisImperfectaTypeV.GeneIFITM5 45days

ICM100947 OsteogenesisImperfectaTypeVI.GeneSERPINF1 45days

ICM100948 OsteogenesisImperfectaTypeVII.GeneCRTAP 45days

ICM100949 OsteogenesisImperfectaTypeVIII.GeneLEPRE1 45days

ICM100951 OsteogenesisImperfectaTypeXI.FKBP10gene 45days

ICM100952 OsteogenesisImperfectatypeXII.GeneSP7 45days

ICM100953 OsteogenesisImperfectaTypeXIII.GeneBMP1 45days

ICM100954 OsteogenesisImperfectaTypeXIV.GeneTMEM38B 45days

ICM100955 OsteogenesisImperfectaTypeXV.GeneWNT1 45days

ICM100416 Osteoglofónicadysplasia.FGFR1gene 45days

ICM100412 OsteoimmuneSchimkedysplasia.GeneSMARCAL1 45days

ICM102140 OsteopetrosisAD,type1.GeneLRP5.CompletesequencingSanger. 45days

ICM101779 OsteopetrosisARtype3.GeneCA2.CompletesequencingSanger. 45days

ICM100967 OsteopetrosisAutosomalintermediate.GeneCLCN7 45days

ICM100965 Osteopetrosisautosomalrecessive8.GeneSNX10 45days

ICM102496 Osteopetrosistype2.GeneARTNFSF11.CompletesequencingSanger. 45days

ICM102250 Osteopetrosis,ARtype5.GeneOSTM1.CompletesequencingSanger. 45days

ICM102285 Osteopetrosis,AR,type6.GenePLEKHM1.CompletesequencingSanger. 45days

ICM102478 Osteopetrosis.GeneTCIRG1.CompletesequencingSanger. 45days

ICM102690 Oto-palato-syndromedigital.FLNAgene.Deletions-duplications(MLPA). 30days

ICM102259 Otofaciocervicalsyndrome.GenePAX1.CompletesequencingSanger. 45days

ICM101578 OtopalatodigitaleswithFLNAdisorders.GeneFLNA 45days

ICM102117 Pachyonychiacongenitaltype3.GeneKRT6A.CompletesequencingSanger. 45days

ICM102118 Pachyonychiacongenital.GeneKRT6B.CompletesequencingSanger. 45days

ICM102113 Pachyonychiacongenital.KRT16gene.CompletesequencingSanger. 45days



ICMcode Pathologydefinition TATICM102114 Pachyonychiacongenital.KRT17gene.CompletesequencingSanger. 45days

ICM102494 Paget,bonedisease.GeneTNFRSF11A.CompletesequencingSanger. 45days

ICM100535 Paget'sdiseaseofbone.GeneTNFRSF11A 45days

ICM101432 Pallister-Hallsyndrome.GeneGLI3 45days

ICM101844 Palmitoylcarnitinedeficiency2.GeneCPT2.CompletesequencingSanger. 45days

ICM102119 Palmoplantarkeratodermaepidermolytic.GeneKRT9.CompletesequencingSanger. 45days

ICM101798 Pancreaticcancer.CDKN2A(p16).CompletesequencingSanger. 45days

ICM102327PAPAsyndrome:pyogenicarthritis-pyodermagangrenosum-acne.GenePSTPIP1.CompletesequencingSanger.

45days

ICM102155 Papillaryrenalcellcarcinomafamiliar.METgene.CompletesequencingSanger. 45days

ICM102260 Papilo-renalsyndrome.PAX2gene.CompletesequencingSanger. 45days

ICM102390 Paragangliomafamilytype3-pheochromocytoma.SDHCgene.CompletesequencingSanger. 45days

ICM101149 Paramyotoniacongenital.GeneSCN4A 45days

ICM102342 ParkesWebersyndrome.GeneRASA1.CompletesequencingSanger. 45days

ICM102811 Parkinsondisease1/4type.SNCAgene.Deletions-duplications(MLPA). 30days

ICM102258 Parkinsondiseasetype2.GenePARK2.CompletesequencingSanger. 45days

ICM102279 Parkinsondiseasetype6.PINK1gene.CompletesequencingSanger. 45days

ICM101876 Parkinsondiseasetype7.DJ1gene.CompletesequencingSanger. 45days

ICM102734 Parkinsondiseasetype8.LRRK2gene.Deletions-duplications(MLPA). 30days

ICM102856 Parkinsondisease.GenesPARK2,PARK7,ATP13A2,PINK1,SNCA,LRRK2,UCH-L1,GCH1.(MLPA). 30days

ICM102278 Paroxysmalnocturnalhemoglobinuria.GenePIGA.CompletesequencingSanger. 45days

ICM102763 Partialpancreaticagenesis.PDX1gene.Deletions-duplications(MLPA). 30days

ICM100536 Pelizaeus-Merzbacherdisease-liketype1.GeneGJC2 45days

ICM100538 Pelizaeus-Merzbacherdisease.PLP1gene 45days

ICM102792 Periodicparalysishypercalcemictype2.SCN4Agene.Deletions-duplications(MLPA). 30days

ICM100938 PeriventricularheterotopiaX-linked.GeneWAS 45days

ICM101552 Peroxisomebiogenesisdisorders10A.GenePEX3 45days


ICM101554 Peroxisomebiogenesisdisorders11B.GenePEX13 45days


ICM101556 Peroxisomebiogenesisdisorders13.GenePEX14 45days




















ICMcode Pathologydefinition TATICM101433 Perrysyndrome.GeneDCTN1 45days

ICM102857 Petersanomaly.GenesPITX2,FOXC.Deletions-duplications(MLPA). 30days

ICM102280 Petersanomaly.PITX2gene.CompletesequencingSanger. 45days

ICM101533 PetersPlussyndrome.GeneB3GALTL 45days

ICM101755 Peters-Plussyndrome.GeneB3GALTL.CompletesequencingSanger. 45days

ICM101434 Peutz-Jegherssyndrome.STK11gene 45days

ICM102817 Peutz-Jegherssyndrome.STK11gene.Deletions-duplications(MLPA). 30days

ICM102685 Pfeiffersyndrome.FGFR1gene.Deletions-duplications(MLPA). 30days

ICM102686 Pfeiffersyndrome.FGFR2gene.Deletions-duplications(MLPA). 30days

ICM102004 Phalangealepiphysealdysplasia-shapedangel.GDF-5gene.CompletesequencingSanger. 45days

ICM102964 PharmacogeneticsofClopidogrel.CYP2C19polymorphismstudy 20days

ICM102963 Pharmacogeneticsofdicumarinics.StudyofCYP2C9andVKORC1polymorphisms 20days

ICM102965 Pharmacogeneticsofsimvastatin.StudyofpolymorphismSLCO1B1 20days

ICM102800 Phelan-McDermidsyndrome.SHANK3gene.Deletions-duplications(MLPA). 30days

ICM100632 Phenylketonuria.PAHgene 45days

ICM101537 Phosphoribosylpyrophosphatesynthetaseoveractivity.GenePRPS1 45days

ICM101184 Picnodisostosis.GeneCTSK 45days

ICM102108 Piebaldism.KITgene.CompletesequencingSanger. 45days

ICM102122 Piersonsyndrome.GeneLAMB2.CompletesequencingSanger. 45days

ICM102477 Pitt-Hopkinssyndrome.TCF4gene.CompletesequencingSanger. 45days

ICM102752 Pitt-Hopkins-likesyndrometype2.GeneNRXN1.Deletions-duplications(MLPA). 30days

ICM100042 Pituitaryadenomasisolatedfromfamilytype.AIPgene 45days

ICM100305 PituitaryhormonedeficiencyrelatedwithPROP1.GenePROP1 45days

ICM102286 PlasminoGenedeficiency1.GenePLG.CompletesequencingSanger. 45days

ICM102903 PlasmodiumDNAdetection. 10days

ICM100408 Platiespondilíticalethalskeletaldysplasia,Torrancetype.COL2A1gene 45days

ICM102281 Polycistickidneydisease.PKD2gene.CompletesequencingSanger. 45days

ICM102858 Polycistosiskidneydisease.GenesPKD1,PKD2.Deletions-duplications(MLPA). 30days

ICM102766 PolycystickidneydiseaseAD.PKD1gene.Deletions-duplications(MLPA). 30days

ICM102767 PolycystickidneydiseaseAD.PKD2gene.Deletions-duplications(MLPA). 30days

ICM101188 Polycystickidneydiseaseautosomalrecessive.GenePKHD1 45days

ICM102768 PolycystickidneydiseaseRA.GenePKHD1.Deletions-duplications(MLPA). 30days

ICM102313 Polycysticliverdisease.GenePRKCSH.CompletesequencingSanger. 45days

ICM100565 Polyglucosansbodydiseaseadult.GeneGBE1 45days

ICM101185 Polyneuropathy,deafness,ataxia,retinitispigmentosaandcataract.GeneABHD12 45days

ICM101469 Polyposissyndromeandbraintumor.APCgene 45days

ICM100701 Pontocerebellarhypoplasiatype1A.GeneVRK1 45days

ICM100703 Pontocerebellarhypoplasiatype2A.GeneTSEN54 45days

ICM100704 Pontocerebellarhypoplasiatype2B.GeneTSEN2 45days

ICM100707 Pontocerebellarhypoplasiatype2C.GeneTSEN34 45days

ICM100708 Pontocerebellarhypoplasiatype4.GeneTSEN54 45days

ICM100711 Pontocerebellarhypoplasiatype6.GeneRARS2 45days

ICM101866 PoordrugmetabolismrelatedCYP2C19.CYP2C19gene.CompletesequencingSanger. 45days

ICM102716 Poplitealpterygiumsyndrome.IRF6gene.Deletions-duplications(MLPA). 30days

ICM101189 Porencephalyfamily.COL4A1gene 45days

ICM101191 Porphyriacutaneatarda.GeneUROD 45days

ICM101195 Porphyriavariegata.GenePPOX 45days



ICMcode Pathologydefinition TATICM102846 Porphyria.GenesFECH,UROS,UROD,CPOX.Deletions-duplications(MLPA). 30days

ICM102445 PraderWilli/Angelmann,syndrome.GeneSNRPB.Methylation. 25days

ICM101767 Prematureovarianfailure.BMP15gene.CompletesequencingSanger. 45days

ICM102951 Prematureovarianfailure.FMR1gene.CGGexpansion. 20days

ICM101438 Prematuritysyndromeandichthyosis.SLC27A4gene 45days

ICM100338 Primarycarnitinedeficiency.SLC22A5gene 45days

ICM100349 Primaryciliarydyskinesiatype1.GeneDNAI1 45days

ICM101881 Primaryciliarydyskinesiatype1.GeneDNAI1.CompletesequencingSanger. 45days

ICM100350 Primaryciliarydyskinesiatype10.GeneDNAAF2 45days

ICM100351 Primaryciliarydyskinesiatype11.GeneRSPH4A 45days

ICM100352 Primaryciliarydyskinesiatype12.GeneRSPH9 45days

ICM100353 Primaryciliarydyskinesiatype13.GeneDNAAF1 45days

ICM100354 Primaryciliarydyskinesiatype14.GeneCCDC39 45days


ICM100356 Primaryciliarydyskinesiatype16.GeneDNAL1 45days


ICM100358 Primaryciliarydyskinesiatype18.GeneHEATR2 45days

ICM100359 Primaryciliarydyskinesiatype19.GeneLRRC6 45days

ICM100360 Primaryciliarydyskinesiatype2GeneDNAAF3 45days


ICM100362 Primaryciliarydyskinesiatype22.GeneZMYND10 45days

ICM100363 Primaryciliarydyskinesiatype23.GeneARMC4 45days

ICM100364 Primaryciliarydyskinesiatype3.GeneDNAH5 45days

ICM100365 Primaryciliarydyskinesiatype5.GeneHYDIN 45days

ICM100366 Primaryciliarydyskinesiatype6.GeneNME8 45days

ICM100367 Primaryciliarydyskinesiatype7.GeneDNAH11 45days

ICM100368 Primaryciliarydyskinesiatype9.GeneDNAI2 45days

ICM101882 Primaryciliarydyskinesiatype9.GeneDNAI2.CompletesequencingSanger. 45days

ICM100335 PrimarydeficitofcoenzymeQ10type5.GeneCOQ9 45days

ICM100336 PrimarydeficitofcoenzymeQ10type6.GeneCoQ6 45days

ICM100427 Primarydystoniaearlyonset.GeneTOR1A 45days

ICM102619 Primaryhyperoxaluriatype1:glyoxylateaminotransferasedeficiencyalanine.GeneAGXT.(MLPA). 30days

ICM100673 PrimaryhyperoxaluriatypeI.GeneAGXT 45days

ICM100674 PrimaryhyperoxaluriatypeII.GeneGRHPR 45days

ICM102631 PrimarymicrocephalyAR.ASPMgene.Deletions-duplications(MLPA). 30days

ICM100820 Primarymicrocephalyautosomalrecessivetype1.GeneMCPH1 45days

ICM100821 Primarymicrocephalyautosomalrecessivetype2GeneWDR62 45days

ICM100825 Primarymicrocephalyautosomalrecessivetype6.GeneCENPJ 45days

ICM100827 Primarymicrocephalyautosomalrecessivetype8.GeneCEP135 45days

ICM101771 Primarypulmonaryhypertension.GeneBMPR2.CompletesequencingSanger. 45days

ICM102503 Primarytorsiondystonia.TOR1Agene(DYT1).C.907_909delGAGdeletion. 20days

ICM102504 Primarytorsiondystonia.TOR1Agene(DYT1).CompletesequencingSanger. 45days

ICM102774 Progressiveexternalophthalmoplegia.GenePOLG.Deletions-duplications(MLPA). 30days

ICM100192 Progressivefamilialintrahepaticcholestasis1.GeneATP8B1 45days

ICM100193 Progressivefamiliarintrahepaticcholestasistype3.GeneABCB4 45days

ICM100591 Progressivemyoclonicepilepsytype1A.CSTBgene 45days

ICM100596 Progressivemyoclonicepilepsytype5.GenePRICKLE2 45days



ICMcode Pathologydefinition TATICM100587 Progressivemyoclonusepilepsy1A.CSTBgene 45days

ICM101914 Progressivemyoclonusepilepsytype2.GeneEPM2A.CompletesequencingSanger. 45days

ICM102679 Progressivemyoclonusepilepsytype2.GeneEPM2A.Deletions-duplications(MLPA). 30days

ICM100592 Progressivemyoclonusepilepsytype3.GeneKCTD7 45days

ICM100595 Progressivemyoclonusepilepsytype4.GeneSCARB2 45days

ICM100599 Progressivemyoclonusepilepsytype6.GeneGOSR2 45days

ICM100590 ProgressivemyoclonusepilepsywithataxiarelatedtoPRICKLE1.GenePRICKLE1 45days

ICM102263 Propionicacidemia.PCCAgene.CompletesequencingSanger. 45days

ICM102762 Propionicacidemia.PCCAgene.Deletions-duplications(MLPA). 30days

ICM102264 Propionicacidemia.PCCBgene.CompletesequencingSanger. 45days

ICM101196 ProtectionHirschsprung'sdisease.RETgene 45days

ICM102319 ProteinSdeficiency.PROS1gen.CompletesequencingSanger. 45days

ICM102776 ProteinSdeficiency.PROS1Gen.Deletions-duplications(MLPA). 30days

ICM101439 Proteussyndrome.AKT1gene 45days

ICM100320 Prothrombindeficiency.GeneF2 45days

ICM101197 Protoporphyriaerythropoieticautosomalrecessive.GeneFECH 45days

ICM102436 Proximalrenaltubularacidosis,AR.SLC4A4gene.CompletesequencingSanger. 45days

ICM102224 Proximalsymphalangism.NOGgene.CompletesequencingSanger. 45days

ICM100969 PRSS1relatedhereditarypancreatitis.GenePRSS1 45days

ICM101838 Pseudoachondroplasia.COMPgene.CompletesequencingSanger. 45days

ICM101200 Pseudoachondroplasia.GeneCOMP 45days

ICM102137 Pseudoexfoliationglaucoma.GeneLOXL1.CompletesequencingSanger. 45days

ICM101207 PseudohipoaldosteronismoautosómicodominanttypeI.GeneNR3C2 45days

ICM102237 Pseudohyperaldosteronism.GeneNR3C2.CompletesequencingSanger. 45days

ICM101203 PseudohypoaldosteronismtypeIIB.GeneWNK4 45days

ICM101204 PseudohypoaldosteronismtypeIIC.GeneWNK1 45days

ICM101205 PseudohypoaldosteronismtypeIID.GeneKLHL3 45days

ICM101206 PseudohypoaldosteronismtypeIIE.GeneCul3 45days

ICM102819 PseudohypoparathyroidismtypeIB.GeneSTX16.Deletions-duplications(MLPA). 30days

ICM102706 PseudohypoparathyroidismtypeIB.GNASgene.Deletions-duplications(MLPA). 30days

ICM101677 Pseudoxantomaelastic.GeneABCC6.CompletesequencingSanger. 45days

ICM102616 Pseudoxantomaelastic.GeneABCC6.Deletions-duplications(MLPA). 30days

ICM100603 Pyridoxal5'-phosphateepilepsy-dependent.GenePNPO 45days

ICM100604 Pyridoxine-dependentepilepsy.GeneALDH7A1 45days

ICM101701 Pyridoxine-dependentepilepsy.GeneALDH7A1.CompletesequencingSanger. 45days

ICM100314 Pyruvatecarboxylasedeficiency.GenePC 45days

ICM100316 Pyruvatedecarboxylasedeficiency.GenePDHA1 45days

ICM100317 Pyruvatedehydrogenasephosphatasedeficiency.GenePDP1 45days

ICM102282 Pyruvatekinasedeficiency.GenePKLR.CompletesequencingSanger. 45days

ICM102941 QuantitativeHIV1 10days

ICM102506 Rapp-Hodgkinsyndrome-ankyloblepharon-ectodermaldysplasia-cleftlipandpalate.TP63gene(TP73L) 45days

ICM102598 RearrangementFISHRPN1/MECOM(inv/t(3)) 15days

ICM102599 RearrangementFISHt(11;14)(IgH/BCL1) 15days

ICM102600 RearrangementFISHt(12;21)ETV6/AML1 15days

ICM102601 RearrangementFISHt(14;18)(IgH/BCL2) 15days

ICM102602 RearrangementFISHt(8;21)AML1/ETO1 15days

ICM102727 RecessivehereditaryspasticparaplegiaX-linkedtype1.GeneL1CAM.Deletions-duplications(MLPA). 30days



ICMcode Pathologydefinition TATICM102771 RecessivehereditaryspasticparaplegiaX-linkedtype2.GenePLP1.(MLPA). 30days

ICM100404 Recessivemultipleepiphysealdysplasia.SLC26A2gene 45days

ICM100115 RecessiveSpasticAtaxiaofCharlevoix-autosomalSaguenay.SACSgene 45days

ICM101164 Recessivespasticparaplegiatype15.GeneZFYVE26 45days

ICM101165 Recessivespasticparaplegiatype18.GeneERLIN2 45days

ICM101168 Recessivespasticparaplegiatype28.GeneDDHD1 45days

ICM101170 Recessivespasticparaplegiatype35.GeneFA2H 45days

ICM101171 Recessivespasticparaplegiatype39.GenePNPLA6 45days

ICM101172 Recessivespasticparaplegiatype44.GeneGJC2 45days

ICM101174 Recessivespasticparaplegiatype47.GeneAP4B1 45days

ICM101175 Recessivespasticparaplegiatype48.GeneAP5Z1 45days

ICM101176 Recessivespasticparaplegiatype49.GeneTECPR2 45days

ICM101177 Recessivespasticparaplegiatype50GeneAP4M1 45days

ICM101178 Recessivespasticparaplegiatype51.GeneAP4E1 45days

ICM101179 Recessivespasticparaplegiatype52.GeneAP4S1 45days

ICM101180 Recessivespasticparaplegiatype53.GeneVPS37A 45days

ICM101182 Recessivespasticparaplegiatype55.GeneC12orf65 45days

ICM101183 Recessivespasticparaplegiatype56.GeneCYP2U1 45days

ICM102272 Refsumdisease.GenePEX7.CompletesequencingSanger. 45days

ICM100540 Refsumdisease.GenesPEX7,PHYH 45days

ICM102541 Renalagenesis.GeneUPK3A.CompletesequencingSanger. 45days

ICM101713 Renalamyloidosisbecauseapolipoprotein.GeneAPOA2.CompletesequencingSanger. 30days

ICM101297 Renalcolobomasyndrome.PAX2gene 45days

ICM101819 Renalhypomagnesemia-hypercalciuria-nephrocalcinosis.GeneCLDN16.CompletesequencingSanger. 45days

ICM102518 Renalhypomagnesemiatype1.GeneTRPM6.CompletesequencingSanger. 45days

ICM101983 Renalhypomagnesemiatype2FXYD2Gen.CompletesequencingSanger. 45days

ICM101820 Renalhypomagnesemiatype5.GeneCLDN19.CompletesequencingSanger. 45days

ICM102775 Renpenningsyndrome.GenePQBP1.Deletions-duplications(MLPA). 30days

ICM102489 Resistancetothyroidhormone.GeneTHRB.CompletesequencingSanger. 45days

ICM100374 Reticulardysgenesis.AK2gene 45days

ICM100339 Retinaldegeneration.GenesNRL,C1QTNF5 45days

ICM102320 Retinitispigmentosatype11,AD.GenePRPF31.CompletesequencingSanger. 45days

ICM101845 Retinitispigmentosatype12,AR.GeneCRB1.CompletesequencingSanger. 45days

ICM102360 Retinitispigmentosatype2,X-linked.GeneRP2.CompletesequencingSanger. 45days

ICM102680 Retinitispigmentosatype25,AR.EYSgene.Deletions-duplications(MLPA). 30days

ICM102236 Retinitispigmentosatype37.GeneNR2E3.CompletesequencingSanger. 45days

ICM102353 Retinitispigmentosatype4AD/AR.RHOgene.CompletesequencingSanger. 45days

ICM102782 Retinitispigmentosatype4AD/AR.RHOgene.Deletions-duplications(MLPA). 30days

ICM102267 Retinitispigmentosatype43.GenePDE6A.CompletesequencingSanger. 45days

ICM102526 RetinitisPigmentosatype51.GeneTTC8(BBS8).CompletesequencingSanger. 45days

ICM101724 Retinitispigmentosatype55.GeneARL6(BBS3).CompletesequencingSanger. 45days

ICM101825 Retinitispigmentosatype61.GeneCLRN1.CompletesequencingSanger. 45days

ICM102838 Retinitispigmentosa.BEST1genes,PRPH2.Deletions-duplications(MLPA). 30days

ICM101801 Retinitispigmentosa.GeneCERKL.CompletesequencingSanger. 45days

ICM102346 Retinitispunctataalbescens.GeneRDH5.CompletesequencingSanger. 45days

ICM101219 Retinoblastoma.RB1gene 45days

ICM101220 Retinopathyofprematurity.GeneFZD4 45days



ICMcode Pathologydefinition TATICM101221 Retinoschisis,X-linked.GeneRS1 45days

ICM101444 Rettsyndrome(skeletal,muscularandnervous).MECP2gene 45days

ICM101795 Rettsyndrome.GeneCDKL5.CompletesequencingSanger. 45days

ICM102643 Rettsyndrome.GeneCDKL5.Deletions-duplications(MLPA). 30days

ICM101974 Rettsyndrome.GeneFOXG1.CompletesequencingSanger. 45days

ICM102692 Rettsyndrome.GeneFOXG1.Deletions-duplications(MLPA). 30days

ICM102150 Rettsyndrome.MECP2gene.CompletesequencingSanger. 45days

ICM102735 Rettsyndrome.MECP2gene.Deletions-duplications(MLPA). 30days

ICM102808 Rhabdoidtumorsyndrome.GeneSMARCB1.Deletions-duplications(MLPA). 30days

ICM100203 Rhizomelicchondrodysplasiapunctatatype1.GenePEX7 45days

ICM100204 Rhizomelicchondrodysplasiapunctatatype2GeneGNPAT 45days

ICM101887 Rightarrhythmogenicventriculardysplasiatype10.GeneDSG2.CompletesequencingSanger. 45days

ICM101888 Rightarrhythmogenicventriculardysplasiatype8.GeneDSP.CompletesequencingSanger. 45days

ICM101886 Rigtharrhythmogenicventriculardysplasiatype11.GeneDSC2.CompletesequencingSanger. 45days

ICM102923 RNAdetectionHBG(hepatitisG). 10days

ICM102924 RNAdetectionHBV(hepatitisB). 10days

ICM102925 RNAdetectionHDV(hepatitisD) 10days

ICM102920 RNAdetectionofCoxsackievirusAYB 10days

ICM102926 RNAdetectionofInfluenzaA(A/H1N1). 10days

ICM102927 RNAdetectionofInfluenzaA(H1N1andH3N2)/B. 10days

ICM102928 RNAdetectionofInfluenzaA/H1N1. 10days

ICM102929 RNAdetectionofInfluenzaA/H3N2. 10days

ICM102930 RNAdetectionofInfluenzaB. 10days

ICM102931 RNAdetectionofParainfluenza1,2and3. 10days

ICM102935 RNAdetectionofRespiratorySyncytialVirus(RSVAandB). 10days

ICM101445 Robertssyndrome.GeneESCO2 45days

ICM101446 Robinowautosomaldominantsyndrome.GeneWNT5A 45days

ICM102783 Robinowsyndrome.GeneROR2.Deletions-duplications(MLPA). 30days

ICM102555 Robinowsyndrome.GeneWNT5A.CompletesequencingSanger. 45days

ICM102459 Rolandicepilepsywithspeechdyspraxia.GeneSRPX2.CompletesequencingSanger. 45days

ICM101448 Rothmund-Thomsonsyndrome.GeneRECQL4 45days

ICM102934 RubellaRNAdetection. 10days

ICM102678 Rubinstein-Taybisyndrome.EP300gene.Deletions-duplications(MLPA). 30days

ICM101846 Rubinstein-Taybisyndrome.GeneCREBBP.CompletesequencingSanger. 45days

ICM102687 Saethre-Chotzensyndrome.FGFR2gene.Deletions-duplications(MLPA). 30days

ICM101450 Saethre-Chotzen.GeneTWIST1 45days

ICM100865 Salihmyopathy.TTNgene 45days

ICM100541 Sandhoffdisease.GeneHEXB 45days

ICM102223 Sarcoidosisearlyonset.GeneNOD2(CARD15).CompletesequencingSanger. 45days

ICM102442 Schimkeimmunobonedysplasia.GeneSMARCAL1.CompletesequencingSanger. 45days

ICM101911 Schizencephaly.GeneEMX2.CompletesequencingSanger. 45days

ICM100385 Schneckenbeckendysplasia.GeneSLC35D1 45days

ICM102807 Schwannomatosis.GeneSMARCB1.Deletions-duplications(MLPA). 30days

ICM100415 SclerosingbonedysplasiarelatedSOST.SOSTgene 45days

ICM102080 Senior-Lokensyndrometype5.IQCB1gene(NPHP5).CompletesequencingSanger. 45days

ICM102294 Sensoryataxicneuropathy-dysarthria-ophthalmoplegia.GenePolg.CompletesequencingSanger. 45days

ICM100936 SensoryneuropathywithdeafnessrelateddementiaandDNMT1.DNMT1gene 45days



ICMcode Pathologydefinition TATICM100417 Septo-optic.GeneHESX1 45days

ICM102043 Septo-optic.GeneHESX1.CompletesequencingSanger. 45days

ICM100749 SeverecombinedimmunodeficiencyassociatedwithDCLRE1C.GeneDCLRE1C 45days

ICM100752 SeverecombinedimmunodeficiencyassociatedwithIL7R.GeneIL7R 45days

ICM100753 SeverecombinedimmunodeficiencyassociatedwithJAK3.JAK3gene 45days

ICM100756 SeverecombinedimmunodeficiencyassociatedwithPTPRC.GenePTPRC 45days

ICM100757 SeverecombinedimmunodeficiencyassociatedwithRAG1.GeneRAG1 45days

ICM100760 SeverecombinedimmunodeficiencyassociatedwithRAG2.GeneRAG2 45days

ICM100748 SeverecombinedimmunodeficiencyassociatedwithZAP70.GeneZAP70 45days

ICM100761 SeverecombinedimmunodeficiencyassociatedwithZAP70.GeneZAP70 45days

ICM102790 Severemyoclonicepilepsyininfancy:Dravetsyndrome.GeneSCN1A.(MLPA). 30days

ICM100497 SevereneonatalencephalopathyrelatedMECP2.MECP2gene 45days

ICM102720 ShortQTsyndrome.GeneKCNH2.Deletions-duplications(MLPA). 30days

ICM102098 ShortQTsyndrome.GeneKCNJ2.CompletesequencingSanger. 45days

ICM102723 ShortQTsyndrome.GeneKCNJ2.Deletions-duplications(MLPA). 30days

ICM102801 Shortstature.SHOXgene.Deletions-duplications(MLPA). 30days

ICM101452 Shwachman-Diamondsyndrome.SBDSgene 45days

ICM101224 Sialidoses.GeneNeu1 45days

ICM100889 Sialuria.GNEgene 45days

ICM101699 Sideroblasticanemia.GeneALAS2.CompletesequencingSanger. 45days

ICM101453 Simpson-Golabi-Behmelsyndrome.GPC3gene 45days

ICM102707 Simpson-Golabi-Behmelsyndrome.GPC3gene.Deletions-duplications(MLPA). 30days

ICM102953 Singlefamilymutationstudy 15days

ICM101454 Sjögren-Larssonsyndrome.GeneALDH3A2 45days

ICM100409 Skeletaldysplasiarelated.GeneCHST3 45days

ICM100662 SLC40A1-relatedhereditaryhemochromatosis.SLC40A1gene 45days

ICM102669 Smith-Lemli-Opitzsyndrome-reductasedeficiency7-dehydrocholesterol.GeneDHCR7.(MLPA). 30days

ICM101875Smith-Lemli-Opitzsyndrome-reductasedeficiency7-dehydrocholesterol.GeneDHCR7.CompletesequencingSanger.

45days

ICM102780 Smith-Magenissyndrome.GeneRAI1.Deletions-duplications(MLPA). 30days

ICM101648 Somatichypermutationofimmunoglobulins. 20days

ICM102490 SorsbydystrophyFundus.TIMP3gene.CompletesequencingSanger. 45days

ICM101536 Sorsbyfundusdystrophy,pseudoinflammatory.GeneTIMP3 45days

ICM101455 Sotossyndrome.NSD1gene 45days

ICM102753 Sotossyndrome.NSD1gene.Deletions-duplications(MLPA). 30days

ICM100116 SpasticAtaxia1.GeneVAMP1 45days

ICM101152 Spasticparaplegiaautosomaldominanttype12.GeneRTN2 45days

ICM101155 Spasticparaplegiaautosomaldominanttype31.GeneREEP1 45days

ICM101160 Spasticparaplegiaautosomaldominanttype6.GeneNIPA1 45days

ICM101162 Spasticparaplegiaautosomalrecessive7.GeneSPG7 45days

ICM102863 Spasticparaplegiahereditary.GenesSPAST,ATL1.Deletions-duplications(MLPA). 30days

ICM101166 Spasticparaplegiarecessivetype20.GeneSPG20 45days

ICM101167 Spasticparaplegiarecessivetype21.GeneSPG21 45days

ICM101169 Spasticparaplegiarecessivetype30.GeneKIF1A 45days

ICM101173 Spasticparaplegiarecessivetype46.GeneGBA2 45days

ICM101181 Spasticparaplegiarecessivetype54.GeneDDHD2 45days

ICM101870 SpasticparaplegiatypeARhereditary5A.CYP7B1gene.CompletesequencingSanger. 45days

ICM101163 Spasticparaplegiawiththinningcallosumhereditary.GeneSPG11 45days



ICMcode Pathologydefinition TATICM102950 SpermFISH,7probes 10days

ICM102238 Spermaticfaulttype8.GeneNR5A1(SF1).CompletesequencingSanger. 45days

ICM100133 Spinalmuscularatrophydistalautosomalrecessivetype1.GeneIGHMBP2 45days

ICM100131 SpinalMuscularAtrophylowerextremitypredominanceautosomaldominantwith.GeneDync1h1 45days

ICM100136 Spinalmuscularatrophytype3X-linked.GeneATP7A 45days

ICM102712 Spinalmuscularatrophywithrespiratoryfailure.GeneIGHMBP2.Deletions-duplications(MLPA). 30days

ICM102634 SpinalmuscularatrophyX-linked.GeneATPA7A.Deletions-duplications(MLPA). 30days

ICM102809 Spinalmuscularatrophy.SMN1gene.Deletions-duplications(MLPA). 30days

ICM102392 Spinalmusculardystrophytype1.GeneSEPN1.CompletesequencingSanger. 45days

ICM100970 SPINK1relatedhereditarypancreatitis.GeneSPINK1 45days

ICM101777 Spinocerebellarataxiaonsetinchildhood.C10orf2gene(TWINKLE).CompletesequencingSanger. 45days

ICM101746 Spinocerebellarataxiatype1.GeneATXN1.CAGexpansion. 30days

ICM101747 Spinocerebellarataxiatype10,AR.GeneATXN10.ATTCTexpansion. 30days

ICM102525 Spinocerebellarataxiatype11.GeneTTBK2.CompletesequencingSanger. 45days

ICM102306 Spinocerebellarataxiatype12.GenePPP2R2B.CAGexpansion. 30days

ICM102092 Spinocerebellarataxiatype13.GeneKCNC3.CompletesequencingSanger. 45days

ICM102312 Spinocerebellarataxiatype14.GenePRKCG.CompletesequencingSanger. 45days

ICM102474 Spinocerebellarataxiatype17.GeneTBP.ExpansionCAA/CAG. 30days

ICM101748 Spinocerebellarataxiatype2.GeneATXN2.CAGexpansion(TP-PCR). 30days


ICM101949 Spinocerebellarataxiatype27,AR.FGF14gene.CompletesequencingSanger. 45days

ICM101750 Spinocerebellarataxiatype3,Machado-Josheph.GeneATXN3.CAGexpansion. 30days

ICM102962 Spinocerebellarataxiatype3,Machado-Josheph.GeneATXN3.CAGexpansion. 30days

ICM102457 Spinocerebellarataxiatype5.GeneSPTBN2.CompletesequencingSanger. 45days

ICM101751 Spinocerebellarataxiatype7.GeneATXN7.CAGexpansion(TP-PCR). 30days


ICM101753 Spinocerebellarataxiatype8.GeneATXN8OS.ExpansionCTA/CTG. 30days

ICM100117 Spinocerebellarataxiawithaxonalneuropathyautosomalrecessive.GeneTDP1 45days

ICM100376 Spondylocostaldysostosistype1.GeneDLL3 45days

ICM100377 Spondylocostaldysostosistype2.GeneMESP2 45days

ICM102154 Spondylocostaldysostosis,AR,type2.GeneMESP2.CompletesequencingSanger. 45days

ICM102355 Spondyloepimetaphysealdysplasiaanauxetictype.GeneRMRP.Sequencingregulatoryarea. 45days

ICM100406 SpondyloepiphyseallateonsetdysplasiaX-linked.GeneTRAPPC2 45days

ICM100630 SpondylolisthesisEhlers-Danlostype.GeneSLC39A13 45days

ICM101675 Stargardtdiseasetype1GeneABCA4(RP19).CompletesequencingSanger. 45days

ICM102614 Stargardtdiseasetype1.GeneABCA4.Deletions-duplications(MLPA). 30days

ICM101909 Stargardtdiseasetype3.GeneELOVL4.CompletesequencingSanger. 45days

ICM102317 Stargardtdiseasetype4.GenePROM1.CompletesequencingSanger. 45days

ICM101880 SteinertsyndromeormyotonicdystrophytypeI.GeneDMPK.CTGexpansion. 30days

ICM102651 SticklerADsyndrometype2.GeneCOL11A1.Deletions-duplications(MLPA). 30days

ICM101456 Sticklersyndrometype1.GeneCOL2A1 45days




ICM101460 Sticklersyndrometype5.COL9A2gene 45days

ICM102658 Sticklersyndrome,AD,type1.COL2A1gene.Deletions-duplications(MLPA). 30days

ICM101793 Stomachcancer.CDH1gene.CompletesequencingSanger. 45days



ICMcode Pathologydefinition TATICM102642 Stomachcancer.CDH1gene.Deletions-duplications(MLPA). 30days

ICM101575 Storagedisorderssialicacid.Salladisease.SLC17A5gene 45days

ICM102387 SuccinatedeficitCoQreductase.GeneSDHA.CompletesequencingSanger. 45days

ICM102795 SuccinatedeficitCoQreductase.GeneSDHA.Deletions-duplications(MLPA). 30days

ICM100321 Succíninildeficitsemialdehydedehydrogenase.GeneALDH5A1 45days

ICM102758 Susceptibilitytopancreaticcancer.PALB2gene.Deletions-duplications(MLPA). 30days

ICM100128 Sveinssonchorioretinalatrophy.GeneTEAD1 45days

ICM101940 Syndactylytype2.FBLN1Gen.CompletesequencingSanger. 45days

ICM101245 SyndromeAllan-Herndon-Dudley.SLC16A2gene 45days

ICM101441 Syndromeandthrombocytopeniaabsentradius.GeneRBM8A 45days

ICM101235 Syndromebranchio-oto-renaltype1.GeneEYA1 45days

ICM101236 Syndromebranchio-oto-renaltype2GeneSIX5 45days

ICM101237 Syndromebranchio-oto-renaltype3.GeneSIX1 45days

ICM101410 Syndromecapillary-arteriovenousmalformation.GeneRASA1 45days

ICM101319 SyndromemtDNAdepletionassociatedSUCLA2;MethylmalonicaciduriaandmildEncephalomyopathy 45days

ICM102741 SyndromemtDNAdepletiontype6.GeneMpv17.Deletions-duplications(MLPA). 30days

ICM101394 Syndromenail-patella.GeneLMX1B 45days

ICM101360 Syndromeneonatalsclerosingcholangitis-ichthyosis.GeneCLDN1 45days

ICM101443 Syndromericketsandalopecia.VDRgene 45days

ICM101512 SyndromeX-linkedimmunoregulation-polyendocrinopathy-enteropathy(IPEXsyndrome).FOXP3gene 45days

ICM100843 Syndromicmicrophthalmiatype3.GeneSOX2 45days

ICM102812 Syndromicmicrophthalmiatype3.GeneSOX2.Deletions-duplications(MLPA). 30days

ICM100543 Tay-Sachsdisease.HEXAgene 45days

ICM102045 Tay-Sachsdisease.HEXAgene.CompletesequencingSanger. 45days

ICM102044 Tay-Sachsdisease.HEXAgene.Mutations1277insTATC;1421+1G>C;G269S. 20days

ICM100719 TDGF1relatedholoprosencephaly.GeneTDGF1 45days

ICM101634 Testschimerism(STR) 45days

ICM101461 Tetra-Ameliasyndrome.GeneWNT3 45days

ICM102709 Thalassemia,deltabeta.HBBgene.Deletions-duplications(MLPA). 30days

ICM102510 ThiopurinedeficitS-methyltransferase.TPMTgene.Alleles1,2,3Aand3C 30days

ICM102511 ThiopurinedeficitS-methyltransferase.TPMTgene.CompletesequencingSanger. 45days

ICM100092 Thoracicaorticaneurysmfamilytype4geneMYH11 45days

ICM100094 Thoracicaorticaneurysmfamilytype7.GeneMYLK 45days

ICM101583 Thrombophiliarelatedprothrombin.GeneF2 45days

ICM102175 Thrombophilia.MTHFRgene.C677Tmutation(Ala222Val);A1298C(Glu429Ala). 15days

ICM102176 Thrombophilia.MTHFRgene.CompletesequencingSanger. 45days

ICM102394 Thrombophilia.SERPINA1gene(PI).CompletesequencingSanger. 45days

ICM102393 Thrombophilia.SERPINA1gene(PI).MutationsE264V;E342K. 15days

ICM101208 Thromboticthrombocytopenicpurpura.ADAMTS13gene 45days

ICM101462 Timothysyndrome.GeneCACNA1C 45days

ICM101464 Townes-Brockssyndrome.GeneSALL1 45days

ICM102788 Townes-Brockssyndrome.GeneSALL1.Deletions-duplications(MLPA). 30days

ICM102910 ToxoplasmosisDNAdetection. 10days

ICM102430 Transientneonatalzincdeficiency.SLC30A2gene.CompletesequencingSanger. 45days

ICM100298 Translocasedeficiencyofcarnitine-acylcarnitine.GeneSLC25A20 45days

ICM101652 TranslocationAF4/MLL.t(4;11)(q21;q23).Qualitative. 15days

ICM101653 TranslocationAF4/MLL.t(4;11)(q21;q23).Quantitative. 10days



ICMcode Pathologydefinition TATICM101654 TranslocationALK/NPM.t(2;5)(p23;q35).Qualitative. 10days

ICM101655 TranslocationAML1/ETO.T(8;21)(q22;q22).Qualitative. 15days

ICM101656 TranslocationAML1/ETO.t(8;21)(q22;q22).Quantitative. 15days

ICM101657 TranslocationAPI2/MALT1(MLT).t(11;18)(q21;q21).Qualitative. 20days

ICM101658 TranslocationBCR/ABL.t(9;22)(q34;q11).Qualitative. 15days

ICM101659 TranslocationBCR/ABL.t(9;22)(q34;q11).Quantitative. 15days

ICM101660 TranslocationDEK/CAN.t(6;9)(p23;q34).Qualitative. 20days

ICM101661 TranslocationE2A/PBX1.t(1;19)(q23;p13.3).Qualitative. 15days

ICM101662 TranslocationE2A/PBX1.t(1;19)(q23;p13.3).Quantitative. 15days

ICM101663 TranslocationMLL/ENL.t(11;19)(q23;p13.3).Qualitative. 20days

ICM101664 TranslocationMYC/IGH.t(8;14)(q24;q32).Qualitative. 15days

ICM101665 TranslocationPDGFRB/TEL(ETV6).t(5;12)(q33;p13).Qualitative. 15days

ICM101666 TranslocationPLZF/RARA.t(11;17)(q23;q21).Qualitative. 15days

ICM101667 TranslocationPLZF/RARA.t(11;17)(q23;q21).Quantitative. 15days

ICM101668 TranslocationPML/RARA.t(15;17)(q22;q11-12).Qualitative. 15days

ICM101669 TranslocationPML/RARA.t(15;17)(q22;q11-12).Quantitative. 15days

ICM101670 TranslocationTEL/AML1.t(12;21)(p13;q22).Qualitative. 15days

ICM101671 TranslocationTEL/AML1.t(12;21)(p13;q22).Quantitative. 20days

ICM101465 TreacherCollinssyndrome1.GeneTCOF1 45days

ICM101466 TreacherCollinssyndrome2.GenePOLR1D 45days

ICM101467 TreacherCollinssyndrome3.GenePOLR1C 45days

ICM102479 Treacher-Collinssyndrome.GeneTCOF1.CompletesequencingSanger. 45days

ICM102822 Treacher-Collinssyndrome.GeneTCOF1.Deletions-duplications(MLPA). 30days

ICM102519 Trichorhinophalangealsyndrome.GeneTRPS1.CompletesequencingSanger. 45days

ICM102826 Trichorhinophalangealsyndrome.GeneTRPS1.Deletions-duplications(MLPA). 30days

ICM101778 Trichothiodystrophy4nonphotosensitive.C7ORF11gene(TTDN1).CompletesequencingSanger. 45days

ICM101915 Trichothiodystrophy.ERCC2gene(XPD).CompletesequencingSanger. 45days

ICM101916 Trichothiodystrophy.GeneERCC3(XPB).CompletesequencingSanger. 45days

ICM102033 Trichothiodystrophy.GTF2H5gene(TTDA).CompletesequencingSanger. 45days

ICM101951 Trigonocephaly.FGFR1gene.CompletesequencingSanger. 45days

ICM101580 Trimethylaminuria.FMO3gene 45days

ICM101673 TripleAsyndrome.AAASgene.CompletesequencingSanger. 45days

ICM101468 Troyersyndrome.GeneSPG20 45days

ICM102866 Tuberoussclerosis.GenesTSC1,TSC2.Deletions-duplications(MLPA). 30days

ICM102521 Tuberoussclerosis.TSC1gene.CompletesequencingSanger. 45days

ICM102827 Tuberoussclerosis.TSC1gene.Deletions-duplications(MLPA). 30days

ICM102522 Tuberoussclerosis.TSC2gene.CompletesequencingSanger. 45days

ICM102828 Tuberoussclerosis.TSC2gene.Deletions-duplications(MLPA). 30days

ICM102505 Tumorproteinp53.TP53gene.CompletesequencingSanger. 45days

ICM102824 Tumorproteinp53.TP53gene.Deletions-duplications(MLPA). 30days

ICM100324 Tyrosinehydroxylasedeficiency.THgene 45days

ICM102566 Tyrosinehydroxylasedeficit.THgene.CompletesequencingSanger. 45days

ICM101546 TyrosinemiatypeI.GeneFAH 45days

ICM101548 TyrosinemiatypeII.TATgene 45days

ICM101549 TyrosinemiatypeIII.HPDgene 45days

ICM101917 Ultravioletsensitivity.GeneERCC4.CompletesequencingSanger. 45days

ICM100544 Unverricht-Lundborgdisease.CSTBgene 45days



ICMcode Pathologydefinition TATICM100517 Urinediseasemaplesyrupodortype1B.GeneBCKDHB 45days

ICM100516 Urinediseasemaplesyrupsmelloftype1A.GeneBCKDHA 45days

ICM100518 Urinediseasemaplesyrupsmelloftype2.GeneDBT 45days

ICM100519 Urinediseasemaplesyrupsmelloftype3.GeneDLD 45days

ICM100327 Urinenucleosidephosphorylasedeficiency.PNPgene 45days

ICM101472 UshersyndrometypeIB.GeneMYO7A 45days

ICM101473 UshersyndrometypeIC.GeneUSH1C 45days

ICM101474 UshersyndrometypeID.geneCDH23 45days

ICM101475 UshersyndrometypeIF.GenePCDH15 45days

ICM101476 UshersyndrometypeIG.GeneUSH1G 45days

ICM101477 UshersyndrometypeIIA.GeneUSH2A 45days

ICM101479 UshersyndrometypeIIC.GPR98gene 45days

ICM101480 UshersyndrometypeIID.GeneDFNB31 45days

ICM101481 UshersyndrometypeIIIB.GeneHARS 45days

ICM101482 UshersyndrometypeIIIA.GeneCLRN1 45days

ICM101483 UshersyndrometypeIJ.GeneCIB2 45days

ICM102545 Ushertype2Asyndrome.GeneUSH2A.CompletesequencingSanger. 45days

ICM102831 Ushertype2Asyndrome.GeneUSH2A.Deletions-duplications(MLPA). 30days

ICM102056 VACTERLassociation.GeneHOXD13.CompletesequencingSanger. 45days

ICM102081 VanderWoudesyndrome.IRF6gene.CompletesequencingSanger. 45days

ICM102717 VanderWoudesyndrome.IRF6gene.Deletions-duplications(MLPA). 30days

ICM101215 VitaminD-resistantricketstypeIA.CYP27B1gene 45days

ICM101216 VitaminD-resistantricketstypeIB.GeneCYP2R1 45days

ICM101217 VitaminD-resistantricketstypeIIA.VDRgene 45days

ICM101765 Vitelliformmaculardystrophy.BEST1gene(VMD2).CompletesequencingSanger. 45days

ICM102548 VonHippel-Lindausyndrome.VHLgene.CompletesequencingSanger. 45days

ICM102832 VonHippel-Lindausyndrome.VHLgene.Deletions-duplications(MLPA). 30days

ICM100545 VonHippel-Lindau.VHLgene 45days

ICM102833 VonWillebranddisease.VWFgene.Deletions-duplications(MLPA). 30days

ICM101250 Waardenburganophthalmiasyndrome.GeneSMOC1 45days

ICM101484 Waardenburgsyndrometype1.GenePAX3 45days

ICM101485 Waardenburgsyndrometype2A.MITFgene 45days

ICM101486 Waardenburgsyndrometype2D.GeneSNAI2 45days

ICM101487 Waardenburgsyndrometype3.GenePAX3 45days

ICM101488 Waardenburgsyndrometype4A.GeneEDNRB 45days

ICM101489 WaardenburgSyndrometype4B.GeneEDN3 45days

ICM101490 Waardenburgsyndrometype4C.SOX10gene 45days

ICM102759 Waardenburgsyndrometypes1and3.GenePAX3.Deletions-duplications(MLPA). 30days

ICM102547 Wagnersyndrome.GeneVCAN.CompletesequencingSanger. 45days

ICM101584 Wagnervitreoretinopathy.VCANassociated 45days

ICM101493 Walker-WarburgsyndromerelatedtoPOMT1.GenePOMT1 45days

ICM102338 Warburgsyndrometype1.GeneRAB3GAP1.CompletesequencingSanger. 45days

ICM101495 Weill-Marchesanisyndrometype1.GeneADAMTS10 45days

ICM101496 Weill-Marchesanisyndrometype2.GeneFBN1 45days

ICM101498 Weill-Marchesanisyndrometype3.GeneLTBP2 45days

ICM101499 WernerSyndrome.WRNgene 45days

ICM100547 Wilson'sdisease.GeneATP7B 45days



ICMcode Pathologydefinition TATICM101744 Wilson'sdisease.GeneATP7B.CompletesequencingSanger. 45days

ICM102635 Wilson'sdisease.GeneATP7B.Deletions-duplications(MLPA). 30days

ICM101743 Wilson'sdisease.GeneATP7B.Exons2,14and18. 45days

ICM101500 Wiskott-Aldrichsyndrome.GeneWAS 45days

ICM101501 Wolcott-Rallisonsyndrome(WRS).GeneEIF2AK3 45days

ICM101504 Wolff-Parkinson-Whitesyndrome(WPW).GenePRKAG2 45days

ICM101814 Wolframsyndrometype2.GeneCISD2.CompletesequencingSanger. 45days

ICM101502 Wolframsyndrome.Genes:WFS1,CISD2 45days

ICM102552 Wolframsyndrome.WFS1gene.CompletesequencingSanger. 45days

ICM101393 Wrinklyskinsyndrome.GeneATP6V0A2 45days

ICM100762 Xlinkedseverecombinedimmunodeficiency.GeneIL2RG 45days

ICM101971 X-fragilesyndrome.FMR1gene.CGGexpansion. 20days

ICM100044 X-linkedadrenoleukodystrophyGeneABCD1 45days

ICM100051 X-linkedagammaglobulinemiaGeneBTK 45days

ICM102302 X-linkedcongenitalhearingloss.GenePOU3F4.CompletesequencingSanger. 45days

ICM102120 X-linkedhydrocephalus.GeneL1CAM.CompletesequencingSanger. 45days

ICM100683 X-linkedhypophosphatemiaGenePHEX 45days

ICM102274 X-linkedhypophosphatemicrickets.GenePHEX.CompletesequencingSanger. 45days

ICM102764 X-linkedhypophosphatemicrickets.GenePHEX.Deletions-duplications(MLPA). 30days

ICM100740 X-linkedichthyosisGeneSTS 45days

ICM100222 X-linkedimmunodeficiencywithmagnesiumdeficit,EBVandneoplasia 45days

ICM102248 X-linkedintellectualdeficit-cerebellarhypoplasia.GeneOPHN1.CompletesequencingSanger. 45days

ICM101739 X-linkedintellectualdeficitHederatype.GeneATP6AP2.CompletesequencingSanger. 45days

ICM102670 X-linkedintellectualdeficittype90.GeneDLG3.Deletions-duplications(MLPA). 30days

ICM102736 X-linkedintellectualdeficit,syndromic,Lubstype.MECP2gene.Deletions-duplications(MLPA). 30days

ICM102558 X-linkedlymphoproliferativedisease.geneXIAP.CompletesequencingSanger. 45days

ICM102408 X-linkedlymphoproliferativedisease.SH2D1Agene.CompletesequencingSanger. 45days

ICM101516 X-linkedlymphoproliferativesyndrometype1.GeneSH2D1A 45days

ICM101517 X-linkedlymphoproliferativesyndrometype2.GeneXIAP 45days

ICM100856 X-linkedmyopathyCentronuclear.GeneMTM1 45days

ICM101198 X-linkedprotoporphyria.GeneALAS2 45days

ICM102362 X-linkedretinitispigmentosa.GeneRPGR.CompletesequencingSanger. 45days

ICM100091 X-linkedsideroblasticanemiaGenesALAS2,HFE 45days

ICM101601 X-linkedspasticparaplegiatype1.MasssyndromesandCrash.GeneL1CAM 45days

ICM101602 X-linkedspasticparaplegiatype2GenePLP1 45days

ICM101582 X-linkedthrombocytopenia.GeneWAS 45days

ICM101593 XerodermapigmentosumgroupA.GeneXPA 45days

ICM101594 XerodermapigmentosumgroupB.GeneERCC3 45days

ICM101595 XerodermapigmentosumgroupC.GeneXPC 45days

ICM101596 XerodermapigmentosumgroupD.GeneERCC2 45days

ICM101597 XerodermapigmentosumgroupE.GeneDDB2 45days

ICM101598 XerodermapigmentosumgroupF.GeneERCC4 45days

ICM101599 XerodermapigmentosumgroupG.GeneERCC5 45days

ICM102325 Xerodermapigmentosumvarianttype.POLHgene(variant).CompletesequencingSanger. 45days

ICM101600 Xerodermapigmentosumvariant.GenePOLH 45days

ICM102818 XLrecessiveichthyosis.STSgene.Deletions-duplications(MLPA). 30days

ICM102749 XlinkedAspergersyndrome.GeneNLGN4X.Deletions-duplications(MLPA). 30days



ICMcode Pathologydefinition TATICM101636 YChromosomepartialdeletions:AZFa,AZFb,AZFc,SRY(DAZ). 20days

PAN

ELS

TEST CATALOG

PANELS

TESTCATALOG PANELS


ICMcode Pathologydefinition TATICM100274 3-methylcrotonyldeficit-CoAcarboxylase.NGSpanel.GenesMCCC1,MCCC2 45days

ICM100973 3-methylglutaconicaciduria.NGSpanel5genes:AUH,OPA3,DNAJC19,TAZ,ATPAF2 45days

ICM100974 Achromatopsia.NGSpanel5genes:CNGA3,CNGB3,GNAT2,PDE6H,PDE6C 45days

ICM100972 Acidemiaandmethylmalonicaciduria.NGSpanel11genes 45days

ICM100047 Afibrinogenaemiacongenital.NGSpanel.GenesFGA,FGB,FGG 45days

ICM101244 Alagillesyndrome.NGSpanel.Genes:JAG1,NOTCH2 45days

ICM101102 Alportsyndromeandthinbasementmembranenephropathy.NGSpanel3genes:COL4A3,COL4A4,COL4A5 45days

ICM101033 Alzheimerdisease.NGSPanel82genes 45days

ICM101067 Arrhythmogenicright/ARVCventricle.NGSPanel7genes 45days

ICM101009 Autismandautismspectrumdisorders.NGSpanel13genes 45days

ICM101103 AutosomalAlportsyndrome.NGSpanel2genes:COL4A3,COL4A4 45days

ICM100566 Autosomaldominantpolycystickidneydisease.NGSpanel.GenesPKD1,PKD2 45days

ICM100211 AutosomalrecessiveCutisLaxa.NGSpanel.GenesEFEMP2,ATP6V0A2,FBLN5 45days

ICM101139 Autosomalrecessiveprimarymicrocephaly.NGSPanel10genes 45days

ICM101104 Bardet-Biedlsyndrome.NGSPanel18genes 45days

ICM101105 Barttersyndrome.NGSpanel4genes:BSND,KCNJ1,SLC12A1,CLCNKB 45days

ICM101106 Brugadasyndrome.NGSpanel7genes:SCN5A,CACNA1C,CACNB2,GPD1L,SCN1B,KCNE3,SCN3B 45days

ICM101101 Cardio-facio-cutaneous.SyndromeNGSpanel4genes:BRAF,KRAS,MAP2K1,MAP2K2 45days

ICM101068 Cardiomyopathywithconductiondefects/DCM+CCD.NGSpanel2genes:SCN5A,LMNA 45days

ICM100982 Cerebralamyloidangiopathy.NGSpanel3genes:CST3,APP,ITM2B 45days

ICM101005 Charcot-Marie-Toothdiseaseandotherinheritedperipheralneuropathies.NGSpanel47genes 45days

ICM100167 Charcot-Marie-Toothdiseasetype3.NGSpanel.GenesMPZ,PMP22,EGR2,PRX 45days

ICM100997 Chondrosarcoma.NGSpanel2genes:EXT1,EXT2 45days

ICM100564 Chronicgranulomatousdisease.NGSpanel.Genes,NCF1,NCF2,CYBANCF4,CYBB 45days

ICM101134 Coagulationdisorders.NGSPanel20genes 45days

ICM101293 CockaynesyndrometypeB.NGSpanel.Genes:ERCC8,ERCC6 45days

ICM101015 Combineddeficitsofoxidativephosphorylation.NGSpanel9genes 45days

ICM101012 Combinedpituitaryhormonedeficiency.NGSpanel8genes 45days

ICM101059 Commonvariableimmunodeficiency.NGSpanel8genes 45days

ICM101029 Conedystrophy.NGSPanel22genes 45days

ICM100981 Congenitaldiserythropoieticanemia.NGSPanel3genes:CDAN1,SEC23B,KLF1 45days

ICM101010 Congenitaldisorderofglycosylation.NGSpanel33genes 45days

ICM101044 Congenitalfibrosisoftheextraocularmuscles.NGSpanel3genes:KIF21A,TUBB3,PHOX2A 45days

ICM101062 Congenitalgeneralizedlipodystrophy(CGL)/Berardinelli-Seipsyndrome.NGSPanel4genes 45days

ICM101063 Congenitalgeneralizedlipodystrophy.NGSpanel4genes:AGPAT2,BSCL2,CAV1,PTRF 45days

ICM101049 congenitalhyperinsulinism(CHI).Panel11genesNGS 45days

ICM101052 Congenitalhypogonadotropichypogonadism.Panel18genesNGS 45days

ICM100609 Congenitalichthyosiformerythrodermanonbullous.NGSpanel.GenesALOX12B,ALOXE3 45days

ICM102975 Congenitalmusculardistrophy.PanelNGS:49genes 45days

ICM100438 CongenitalmusculardystrophycollaGeneVIdeficit.NGSpanel.GenesCOL6A1,COL6A2,COL6A3 45days

ICM101126 Congenitalmyasthenicsyndrome.NGSPanel8genes 45days

ICM101028 Cornealdystrophy.NGSpanel8genes:TGFBIUBIAD1,CHST6,VSX1,PIKFYVE,DCN,KRT12,KRT3 45days

ICM101107 CorneliadeLangesyndrome.NGSpanel5genes:NIPBL,SMC1A,SMC3,RAD21,HDAC8 45days

ICM101108 Cowdensyndrome.NGSpanel6genes:PTEN,SDHB,KLLN,SDHD,PIK3CA,AKT1 45days

ICM101128 CraniosynostosissyndromesassociatedwithFGFR.NGSpanel3genes:FGFR1,FGFR2,FGFR3 45days

ICM101129 Creatinedeficiencysyndromes.NGSpanel2genes:GAMT,SLC6A8 45days

ICM101314 Crisponisyndrome.NGSpanel.Genes:CRLF1,CLCF1 45days

TESTCATALOG PANELS


ICMcode Pathologydefinition TATICM102955 CustompanelbysequencingNGS 45days

ICM102956 CustompanelbysequencingNGS 45days




ICM100999 CutisLaxa.NGSPanel8genes:ATP6V0A2,FBLN5,EFEMP2,ELN,ATP7A,LTBP4,PYCR1,ALDH18A1 45days

ICM101011 Defectsinperoxisomebiogenesis;Zellwegersyndromespectrum.NGSpanel14genes 45days

ICM101007 Developmentaldelays.NGSpanel463genes 45days

ICM101017 DiabetesMellituspermanentneonatal(PNDM).NGSpanel15genes 45days

ICM101018 DiabetesMellitustransientneonatal(TNDM).NGSpanel7genes 45days

ICM100979 Diamond-Blackfananemia.NGSPanel9genes 45days

ICM101078 Diasquinesiaprimaryciliary.NGSPanel20genes 45days

ICM101069 Dilated/DCMcardiomyopathy.NGSPanel23genes 45days

ICM101008 Disordersofsexualdevelopment.NGSpanel219genes 45days

ICM101133 Disordersoftheureacycle.NGSpanel8genes:ARG1,ASL,ASS1,CPS1,NAGS,OTC,SLC25A13,SLC25A15 45days

ICM101041 Dominantnocturnalfrontallobeepilepsy.NGSpanel3genes:CHRNA4,CHRNB2,CHRNA2 45days

ICM100428 Dopadystoniaresponsible.NGSpanel.GCH1genes,SPR,TH 45days

ICM102960 Dynamicnohereditaryataxias(SCA).NGSpanel.30genes 45days

ICM101026 Dyskeratosiscongenita.NGSpanel7genes:CTC1,DKC1,TERT,TINF2,NHP2,Nop10,Wrap53 45days

ICM101027 Dystonia.NGSpanel5genes:GCH1,TAF1,ATP1A3,SGCE,PANK2 45days

ICM100496 Earlyinfantileepilepticencephalopathy.NGSpanel.GenesCDKL5,SLC25A22,ARX 45days

ICM101022 Ectodermaldysplasia.NGSPanel6genes:EDA,EDAR,EDARADD,GJB6,IKBKG,NFKBIA 45days

ICM101509 Ehlers-Danlossyndromeclassic.NGSpanel.Genes:COL5A1,COL5A2,COL1A1 45days

ICM101230 Ehlers-Danlossyndrometypearthrochalasia.NGSpanel.Genes:COL1A1,COL1A2 45days

ICM101109 Ehlers-DanlosSyndrome.NGSPanel9genes 45days

ICM100987 Endometrialcancer.NGSpanel5genes:MLH1,MSH2,MSH6,PMS2,EPCAM 45days

ICM100571 EpidermolysisbulloussimplexDowling-Mearatype.NGSpanel.GenesKRT5,KRT14 45days

ICM100585 EpidermolysisbulloussimplexDowling-Mearatype.NGSpanel.GenesKRT5,KRT14 45days

ICM100572 Epidermolysisbulloussimplex,autosomalrecessivetype1NGSpanel.GenesKRT5,KRT14 45days

ICM100573 Epidermolysisbullouswithpyloricatresia.NGSpanel.Genes,ITGA6,PLEC,ITGB4 45days

ICM101039 Epidermolysisbullous.NGSPanel10genes 45days

ICM100977 Epilepsy.NGSPanel194genes 45days

ICM101625 Expandedpanelofbreastandovariancancer(21genes) 20days

ICM101624 ExpandedpanelSNPsthrombosisrisk.21SNPs 20days

ICM101186 Familialadenomatouspolyposis.NGSpanel.APCgenes,MUTYH 45days

ICM101042 Familialamyotrophiclateralsclerosis.NGSPanel18genes 45days

ICM102976 Familialhipercholesterolemia.PanelNGS:4genes 45days

ICM100675 Familialisolatedhyperparathyroidism.NGSpanel.GenesCDC73,MEN1,CASR 45days

ICM101089 Familialparaganglioma.NGSpanel5genes:SDHB,SDHC,SDHD,SDHAF2,VHL 45days

ICM100980 Fanconianemia.NGSPanel15genes 45days

ICM101082 Femalehereditarycancer(16typesofhereditarycancer).NGSPanel49genes 45days

ICM101631 Femalehereditarycancerpanel(49genes) 45days

ICM101045 Frontotemporaldementia.NGSpanel8genes:APOE,CHMP2B,FUS,GRN,MAPT,PSEN1,TARDBP,VCP 45days

ICM100641 Fundusalbipunctatus.NGSpanel.GenesRDH5,RLBP1 45days

ICM100643 Galactosemia.NGSpanel.GenesGALE,GALK1,GALT 45days

ICM101046 Gangliosidosis.NGSpanel4genes:GLB1,GM2A,HEXA,HEXB 45days

ICM100647 Gangliosidosis.NGSpanel.GenesGLB1,GM2A 45days

TESTCATALOG PANELS


ICMcode Pathologydefinition TATICM100993 Gastriccancer.NGSpanel6genes:CDH1,MLH1,MSH2,MSH6,PMS2,EPCAM 45days

ICM101222 Geneticscreeningofmitochondrialdiseases.NGSpanel248genes:+MT 45days

ICM102966 Girdlemusculardystrophy.NGSpanel23genes 45days

ICM100012 GlutaricacidemiatypeII.NGSpanel.GenesETFA,ETFB,ETFDH 45days

ICM100013 Glutaricacidemia.NGSpanel.GenesGCDH,ETFA,ETFB,ETFDH 45days

ICM100498 Glycineencephalopathy.NGSpanel.GLDCgenes,AMT,GCSH 45days

ICM101032 GlycoGenestoragedisease.NGSPanel19genes 45days

ICM101111 Griscellisyndrome.NGSpanel3genes:MYO5A,RAB27A,MLPH 45days

ICM100668 Haemophilia.NGSpanel.GenesF8,F9 45days

ICM100978 Heartdiseases;arrhythmias;Cardiomyopathies,conductiondefects.NGSPanel61genes 45days

ICM102961 Hereditaryataxiasdynamics(SCA).Panelexpansions.7genes 30days

ICM101000 HereditaryCancerMale(15typesofhereditarycancer).NGSPanel41genes 45days

ICM100986 Hereditarycolorectalcancer(includesfrequentmutationsandPOLD1POLE).NGSPanel14genes 45days

ICM101047 Hereditarydeafness.NGSPanel127genes 45days

ICM101048 hereditaryhemochromatosis.NGSpanel5genes:HAMP,HFE,HFE2,SLC40A1,TFR2 45days

ICM101131 HereditaryHemorrhagicTelangiectasia.NGSpanel3genes:ENG,ACVRL1,SMAD4 45days

ICM101091 Hereditarymusculardisease.NGSPanel81genes 45days

ICM101003 Hereditarymyopathies.NGSPanel68genes 45days

ICM101081 Hereditarypancreatitis.NGSpanel5genes:PRSS1,SPINK1,CFTR,SBDS,UBR1 45days

ICM101092 Hereditaryrenalcysticdiseaseadult.NGSpanel7genes:VHL,TSC1,TSC2,UMOD,PKD1,PKD2,MUC1 45days

ICM101097 Hereditaryrickets.NGSPanel14genes 45days

ICM101077 Hereditarysensoryandautonomicneuropathies.NGSPanel10genes 45days

ICM101076 Hereditarysensorymotorneuropathies.NGSPanel37genes 45days

ICM101006 Hereditaryskeletalpathology.NGSpanel363genes 45days

ICM100680 Hipocondrogénesis.NGSpanel.COL2A1genes,SLC26A2 45days

ICM101054 Holoprosencephalynon-syndromic.NGSPanel14genes 45days

ICM101055 Homocystinuria.NGSpanel6genes:CBS,MTHFR,MTR,MTRR,MMADHC,MMACHC 45days

ICM100731 Homocystinuria.NGSpanel.GenesCBS,MTHFR 45days

ICM101051 Hyperprolinaemia.NGSpanel2genes:PRODH,ALDH4A1 45days

ICM101070 Hypertrophic/CardiomyopathyHCM.NGSPanel16genes 45days

ICM100393 Hypohidroticectodermaldysplasia.NGSpanel.GenesEDA,EDAR,EDARADD 45days

ICM101146 Hypokalemicperiodicparalysis1and2.NGSpanel.Genes:CACNA1S,SCN4A 45days

ICM101056 Ichthyosisandichthyosiformerirtroderma.NGSPanel25genes 45days

ICM101057 Immunodeficiency.NGSpanel32genes 45days

ICM101141 Imperfectosteogenesis.NGSPanel13genes 45days

ICM101031 Infantileepilepticencephalopathy.NGSPanel36genes 45days

ICM101335 InfantilespasmsyndromeX-linkedgenesNGSpanelARX,CDKL5 45days

ICM101001 Intellectualdeficit.NGSPanel514genes 45days

ICM101112 Joubertsyndromeandrelateddisorders.NGSPanel21genes 45days

ICM101437 Juvenilepolyposissyndrome.NGSpanel.GenesSMAD4,BMPR1A 45days

ICM101113 Kallmannsyndrome.NGSpanel6genes:KAL1,FGFR1,PROKR2,PROK2,CHD7,FGF8 45days

ICM101004 Kidneydiseaseandkidneydisease.NGSpanel355genes 45days

ICM100520 Laforadisease.NGSPanel.GenesEPM2A,NHLRC1 45days

ICM100976 LeberCongenitalAmaurosis.NGSPanel19genes 45days

ICM101135 Leftventricularnon-compaction/LVNC.NGSPanel13genes 45days

ICM100785 LeukodystrophiesrelatedtoPolIII.NGSpanel.GenesPOLR3A,POLR3B 45days

ICM100788 Leukoencephalopathywithvanishingwhitematter.NGSpanel.GenesEIF2B1,EIF2B2,EIF2B3,EIF2B4,EIF2B5 45days

TESTCATALOG PANELS


ICMcode Pathologydefinition TATICM101060 Leukoencephalopathy.NGSpanel54genes 45days

ICM101125 LinkedlymphoproliferativesyndromeX.NGSpanel2genes:SH2D1A,XIAP 45days

ICM101064 Lipofucinosisneuronalceroid.NGSPanel13genes 45days

ICM100802 Lipofuscinosesneuronalceroid.NGSpanel.GenesPPT1,CTSD,TPP1,CLN3,CLN5,CLN6,MFSD8,CLN8 45days

ICM101405 Loeys-Dietzsyndrome1and2.NGSpanel.Genes:TGFBR1,TGFBR2 45days

ICM101061 LymphohistiocytosisfamilyHemophagocytic.NGSpanel4genes:PRF1,STX11,STXBP2,UNC13D 45days

ICM101115 Lynchsyndrome.NGSpanel4genes:MLH1,MSH2,MSH6,EPCAM 45days

ICM101002 Maculardegeneration.NGSPanel15genes 45days

ICM101016 Maculardegeneration.NGSpanel57genes 45days

ICM101030 Maculardystrophy.NGSPanel11genes 45days

ICM101630 Malehereditarycancerpanel(41genes) 45days

ICM101025 MandibuloacraldysplasiaA(MADA)lipodystrophy.NGSpanel2genes:LMNA,ZMPSTE24 45days

ICM100413 Mandibuloacraldysplasia.NGSpanel.GenesLMNA,ZMPSTE24 45days

ICM101038 Marfan-relateddiseasesandaneurysmsdisease.NGSPanel14genes 45days

ICM101065 Melanoma.NGSpanel2genes:CDKN2A,CDK4 45days

ICM101020 Metabolismdysfunctionofpulmonarysurfactant.NGSpanel5genes:SFTPB,ABCA3,CSF2RA,CSF2RB,SFTPC 45days

ICM100014 Metabolopathiesanddrugresponse.NGSPanel169genes 45days

ICM100021 Methylmalonicacidemia.NGSpanel.GenesMUT,MMYY,MOEF,ESCM,MMADHC 45days

ICM101066 Microphthalmia/Anophthalmia.NGSPanel38genes 45days

ICM101019 MODYdiabetes.NGSpanel13genes 45days

ICM101072 Mucolipidoses.NGSpanel4genes:Neu1,GNPTAB,GNPTG,MCOLN1 45days

ICM101073Mucopolysaccharidosis.NGSpanel10genes:ARSB,GALNS,GLB1,GNS,GUSB,HGSNAT,IDS,IDUA,SGSH,NAGLU

45days

ICM101074 Multipleendocrineneoplasia.NGSpanel3genes:MEN1,RET,CDKN1B 45days

ICM101023 Multipleepiphysealdysplasia.NGSpanel6genes:COL9A1,COL9A2,COL9A3,COMP,MATN3,SLC26A2 45days

ICM101138 Multipleepiphysealdysplasia.NGSpanel6genes:COL9A1,COL9A2,COL9A3,COMP,MATN3,SLC26A2 45days

ICM101440 Multiplepterygiumsyndrome.NGSpanel.Genes:CHRNA1,CHRND,CHRNG,RAPSN 45days

ICM100426 Myoclonicdystonia.NGSpanel.GenesEQAS,DRD2 45days

ICM101140 Myofibrillarmyopathy.NGSpanel8genes:BAG3,CRYAB,DES,DNAJB6,FHL1,CNLF,LDB3,MYOT 45days

ICM100925 Neurofibromatosis.NGSpanel.GenesNF1,NF2 45days

ICM100939 Neutropenia.NGSpanel.GenesELANE,WAS 45days

ICM100532 Niemann-Pickdisease.NGSpanel.GenesNPC1,NPC2,SMPD1 45days

ICM100995 Nightblindnesscongenitalandhereditary.NGSPanel11genes 45days

ICM101037 Non-syndromicHirschsprungdisease.NGSpanel5genes:GDNF,EDNRB,EDN3,ECE1,RET 45days

ICM101116 Noonansyndrome.NGSpanel7genes:PTPN11,KRAS,SOS1,RAF1,NRAS,BRAF,MAP2K1 45days

ICM101079 Nystagmus.NGSpanel2genes:FRMD7,GPR143 45days

ICM100975 Oculocutaneousalbinism.NGSPanel17genes 45days

ICM101430 Omennsyndrome.NGSpanel.Genes:RAG1,RAG2,DCLRE1C 45days

ICM100985 Opticatrophy.NGSpanel3genes:OPA1,OPA3,TMEM126A 45days

ICM100944 OsteogenesisImperfectatypeI-IV.NGSpanel.GenesCOL1A1,COL1A2 45days

ICM101080 Osteopetrosis;Albers-Schonbergsyndrome.NGSPanel10genes 45days

ICM101142 Pachyonychiacongenital.NGSpanel4genes:KRT6A,KRT16,KRT6B,KRT17 45days

ICM101013 Palmitoyl-carnitinedeficiency.NGSpanel2genes:CPT1A,CPT2 45days

ICM100989 Pancreaticcancer.NGSPanel2genes:BRCA2,PALB2 45days

ICM101628 PanelAdetectionandidentificationofSTIs 7days

ICM101629 PanelBdetectionandidentificationSTI 7days

ICM101615 PanelDiabetesRisktypeII 20days

ICM101619 PanelSNPshypertensionrisk 20days

TESTCATALOG PANELS


ICMcode Pathologydefinition TATICM101620 PanelSNPsthrombosisrisk.15SNPs 20days

ICM100990 Parathyroidcancer.NGSpanel2genes:CDC73,MEN1 45days

ICM101036 Parkinson'sdisease.NGSPanel34genes 45days

ICM101093 Pathologiesspectrumbranchio-oto-renal.NGSpanel3genes:EYA1SIX5,SIX1 45days

ICM101117 Pendredsyndrome.NGSpanel3genes:foxi1,KCNJ10,SLC26A4 45days

ICM100670 PeriventricularheterotopiaX-linked.NGSPanel.GenesFLNA,ARFGEF2 45days

ICM101043 Pheochromocytoma.NGSpanel9genes:SDHAF2,SDHB,SDHC,SDHD,RET,VHL,MAX,NF1,TMEM127 45days

ICM100943Polycysticosteodysplasialipomembranouswithsclerosingleukoencephalopathy.NGSpanel.GenesTREM2,TYROBP

45days

ICM101094Polyposis.NGSpanel11genes:MLH1,MSH2,MSH6,EPCAM,APC,MUTYH,STK11,PTEN,SMAD4,BMPR1A,NF1 45days

ICM101053 Pontocerebellarhypoplasia.NGSpanel5genes:TSEN2,TSEN34,TSEN54,RARS2,VRK1 45days

ICM101095 Porphyria.NGSpanel8genes:FECH,ALAS2,CPOX,HMBS,AUROCHES,ALAD,PPOX,UROD 45days

ICM101014 PrimarydeficitofcoenzymeQ10.NGSpanel7genes:COQ2,PDSS1,PDSS2,ADCK3,COQ9,COQ6,APTX 45days

ICM101050 Primaryhyperoxaluria.NGSpanel2genes:AGXT,GRHPR 45days

ICM100996 Progressiveintrahepaticcholestasisfamiliar.NGSpanel3genes:ATP8B1,ABCB11,ABCB4 45days

ICM101040 Progressivemyoclonusepilepsy.NGSPanel8genes 45days

ICM101100 Proliferativeautoimmunesyndrome.NGSpanel3genes:FAS,FASLG,CASP10 45days

ICM100022 Propionicacidemia.NGSpanel.GenesPCCA,PCCB 45days

ICM100991 Prostatecancer.NGSpanel3genes:BRCA1,BRCA2,CHEK2 45days

ICM101202 Pseudohypoaldosteronismautosomalrecessivetype1.NGSpanel3genes:SCNN1A,SCNN1B,SCNN1G 45days

ICM101096 Pseudohypoaldosteronism.NGSpanel8genes:NR3C2,SCNN1A,SCNN1B,SCNN1G,WNK4WNK1,KLHL3,Cul3 45days

ICM102967 Rasopathy.NGSpanel:9genes 45days

ICM102968 RawdataNGSpanel 20days

ICM100994 Renalcarcinoma.NGSpanel4genes:VHL,MET,FH,FLCN 45days

ICM101071 Restrictive/RCMcardiomyopathy.NGSpanel3genes:MYH7,TNN2TNNI3 45days

ICM100483 Retinaldystrophy.NGSpanel.Genes,OTX2,ABCA4,LRAT,EFEMP1,INPP5E,RLBP1 45days

ICM101098 Retinitispigmentosa.NGSPanel57genes 45days

ICM101218 Retinitispunctataalbescens.NGSpanel.Genes:PRPH2,RHO 45days

ICM101449 Rubinstein-Taybisyndrome1and2.NGSpanel.GenesCREBBP,EP300 45days

ICM101118 Senior-Lokensyndrome.NGSpanel5genes:NPHP1,NPHP4,IQCB1,CEP290,SDCCAG8 45days

ICM101058 Severecombinedimmunodeficiency.NGSpanel9genes 45days

ICM101127 ShortQTsyndrome.NGSpanel5genes:KCNH2,KCNJ2,CACNA1C,CACNB2,KCNQ1 45days

ICM101124 Sicksinussyndrome.NGSpanel2genes:SCN5A,HCN4 45days

ICM101099 SíndromelongQT.NGSPanel12genes 45days

ICM101534 Sitosterolaemia.NGSpanel.Genes:ABCG5,ABCG8 45days

ICM101024 Skeletaldysplasia.NGSPanel44genes 45days

ICM101090 Spasticparaplegiahereditary.NGSPanel37genes 45days

ICM100984 Spinalmuscularatrophy.NGSpanel7genes:PLEKHG5,ATP7A,IGHMBP2,UBA1,DYNC1H1,TRPV4,SMN1 45days

ICM101021 Spondylocostaldysostosisautosomalrecessive.NGSpanel4genes:DLL3,MESP2,LFNG,HES7 45days

ICM100542 Stargardtdisease.NGSpanel.GenesABCA4,PROM1,ELOVL4 45days

ICM101119 Sticklersyndrome.NGSpanel5genes:COL2A1,COL11A1,COL9A1,COL9A2,COL11A2 45days

ICM101209 Striatepalmoplantarkeratosis.NGSpanel.Genes:DSG1,DSP,KRT1 45days

ICM101114 Syndromeofmultiplelentigo;Leopardsyndrome.NGSpanel3genes:PTPN11,RAF1,BRAF 45days

ICM100322 Tetrahydrobiopterindeficiency.NGSpanel.PTSgenes,QDPR,GCH1,PCBD1 45days

ICM100992 Thyroidcancer.NGSpanel2genes:RET,NTRK1 45days

ICM101120 TreacherCollinssyndrome.NGSpanel3genes:TCOF1,POLR1D,POLR1C 45days

ICM100629 Tuberoussclerosis.NGSpanel.GenesTSC1,TSC2 45days

TESTCATALOG PANELS


ICMcode Pathologydefinition TATICM101132 Tyrosinemia.NGSpanel3genes:FAH,TAT,HPD 45days

ICM101034 UrineDiseasesmellingmaplesyrup.NGSpanel4genes:BCKDHA,BCKDHB,DBT,DLD 45days

ICM101471 Ushersyndrometype1D/Fdigenic.NGSpanel.Genes:PCDH15,CDH23 45days

ICM101478 UshersyndrometypeIIC,digenic.NGSpanel.Genes:PDZD7,GPR98 45days

ICM101121 Ushersyndrome.NGSPanel13genes 45days

ICM101130 Ventriculartachycardia,catecholaminergicpolymorphic/CPVT.NGSpanel2genes:RYR2,CASQ2 45days

ICM101136 Vitroretinopatíafamilialexudative.NGSpanel4genes:FZD4,LRP5,TSPAN12,NDP 45days

ICM101491 Waardenburgsyndromeanddigenicalbinism.NGSpanel.Genes:TYR,MITF 45days

ICM101122 Waardenburgsyndrome.NGSpanel7genes:EDN3,EDNRB,MITF,PAX3,SNAI2,SOX10,TYR 45days

ICM101123 Weill-Marchesanisyndrome.NGSpanel3genes:ADAMTS10,FBN1,LTBP2 45days

ICM101199 X-linkedprotoporphyria.NGSPanel.Genes:ALAS2,FECH 45days

ICM101137 XerodermaPigmentum.NGSpanel9genes:DDB2,ERCC1,ERCC2,ERCC3,ERCC4,ERCC5,POLH,XPA,XPC 45days

EX

OM

AS

TEST CATALOG

EXOMAS

TESTCATALOG EXOMES


ICMcode Pathologydefinition TATICM101610 Exomeadvancedclinical 45days

ICM101612 ExomeadvancedNijmeGene-Trio 45days

ICM101611 Exomedirectedepilepsy 45days

ICM101614 ExomeRawdata(>20,000genes) 45days

ICM101609 Exometargetingphenotype 45days

ICM101608 ExomeTruSightIllumina4800genes 45days

ICM101613 FullexomeTrio(>20,000genes) 45days

Documents

TEST CATALOG - Genetyca ICM · ICM100435 Areolar choroidal dystrophy central type 2. Gene PRPH2 45 days ICM100289 Arginase deficiency. Gene ARG1 45 days ICM100290 Argininosuccinate