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A comprehensive test for your patients with Thrombotic Microangiopathies OR C3 Glomerulopathies Genetic Renal Panel ČĊēĊęĎĈ ęĊĘęĎēČ Genetic Renal Panel ČĊēĊęĎĈ ęĊĘęĎēČ ¦ÄÝ ÊÄ ã« ¦Äã® ÙĽ ÖĽ ADAMTS13 (A Disintegrin and Metalloproteinase with a Thrombospondin Type 1 Motif, member 13) C3 (Complement Component 3) CFB (Complement Factor B) CFH (Complement Factor H) CFHR5 (Complement Factor H Related 5) CFI (Complement Factor I) DGKE (Diacylglycerol Kinase, Epsilon) G6PD (Glucose6phosphate dehydrogenase) MCP (Membrane CoFactor Protein or CD46) MMACHC (Methylmalonic Aciduria (Cobalamin Deϔiciency) CblC Type, With Homocystinuria ) PLG (Plasminogen) THBD (Thrombomodulin) MLPA (CFHCFHR5 genomic region CNV analysis) Genetic Renal Panel Solve Rate HighThroughput Genetic Testing for Thrombotic Microangiopathies and C3 Glomerulopathies, Fengxiao Bu et. al, J Am Soc Nephrol 27: 1245 – 1253, 2016. doi: 10.1681/ASN.2015040385 Molecular Otolaryngology and Renal Research Laboratories Director: Richard J.H. Smith, M.D. Contact: Amy Weaver, Project Assistant [email protected] Website: https://morl.lab.uiowa.edu

ADAMTS13 and Metalloproteinase with a Thrombospondin ... · High‐Throughput Genetic Testing for Thrombotic Microangiopathies and C3 Glomerulopathies, Fengxiao Bu et. al, J Am Soc

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Page 1: ADAMTS13 and Metalloproteinase with a Thrombospondin ... · High‐Throughput Genetic Testing for Thrombotic Microangiopathies and C3 Glomerulopathies, Fengxiao Bu et. al, J Am Soc

Acomprehensivetestforyourpatientswith

ThromboticMicroangiopathiesOR

C3Glomerulopathies

GeneticRenalPanel

GeneticRenalPanel

ADAMTS13(ADisintegrinandMetalloproteinasewithaThrombospondinType1Motif,member13)

C3(ComplementComponent3)

CFB(ComplementFactorB)

CFH(ComplementFactorH)

CFHR5(ComplementFactorHRelated5)

CFI(ComplementFactorI)

DGKE(DiacylglycerolKinase,Epsilon)

G6PD(Glucose‐6‐phosphatedehydrogenase)

MCP(MembraneCo‐FactorProteinorCD46)

MMACHC(MethylmalonicAciduria(CobalaminDe iciency)CblCType,WithHomocystinuria)

PLG(Plasminogen)

THBD(Thrombomodulin)

MLPA(CFH‐CFHR5genomicregionCNVanalysis)

GeneticRenalPanelSolveRateHigh‐ThroughputGeneticTestingforThromboticMicroangiopathiesandC3Glomerulopathies,FengxiaoBuet.al,JAmSocNephrol27:1245–1253,2016.doi:10.1681/ASN.2015040385

MolecularOtolaryngologyandRenalResearchLaboratories

Director:RichardJ.H.Smith,M.D.

Contact:AmyWeaver,ProjectAssistant

[email protected]

Website:https://morl.lab.uiowa.edu

Page 2: ADAMTS13 and Metalloproteinase with a Thrombospondin ... · High‐Throughput Genetic Testing for Thrombotic Microangiopathies and C3 Glomerulopathies, Fengxiao Bu et. al, J Am Soc

Inthepast,personsdiagnosedwithcomplement‐mediatedkidneydiseaserequiredmultipleteststoattempttoidentifythegeneticcauseoftheirdisease.TheGeneticRenalPanelisacomprehensivetestforpatientswith:

ThromboticMicroangiopathies(TMAs)

Thromboticthrombocytopenicpurpura(TTP)

Complement‐mediateddisease(aHUS) G6PDde iciency Cobalaminde iciency

C3Glomerulopathy(C3G)

DenseDepositDisease(DDD)

C3Glomerulonephritis(C3GN)

G

Helping you solve the puzzle of complement-mediated diseases

Toordercomprehensivetestingforyourpatientpleasevisitourwebsiteat:

https://morl.lab.uiowa.edu

TheUniversityofIowaMolecularOtolaryngology&RenalResearchLaboratoriesofferstheGeneticRenalPanel‐onetestthatis:

Comprehensive–testsforallgenesknowntobeassociatedwithavarietyofTMAs,andC3Gs.

Easy–patientprovidesonebloodsample.

Fast–averageturnaroundtimeof21days.

Convenient–bloodsampleistakeninlocaldoctor’soffice.

Accurate–99%analyticalspecificity.

Diagnostic–providesadiagnosisandguidetotreatment,transplantationandgeneticcounseling.

Personalized–resultsarediscussedatamultidisciplinarymeetingthatincludesphysicians,clinicalexperts,scientistsandbioinformaticians.

Collaborative–MORLwillworkdirectlywithyourphysicianorgeneticcounselortoensurethattestresultsareinterpretedaccurately.

Inexpensiveandef icient–onetestversusmanytests.

A comprehensive evaluation of the complementsystem requires four types of data to offer toyour patient the best chance of accuratelyde ining the cause and consequence ofcomplementdysregulation.

MeasuringComplementFunction–Measuringandfollowingcomplementactivitycanpredictdiseasestatus(activevs.inactive)andresponsetotherapy.

ComplementBiomarkerPro iling–Speci icbiomarkersprovideadetailedandmechanisticunderstandingoftheunderlyingcomplementpathologytoaddtodiseasede inition.Byde iningacomplementpathwaysignature,biomarkerscanbeusefultofollowdiseaseactivityand/orseverityintheclinicalsetting.

IdentifyingAcquiredDriversofDisease–IdentifyingacquireddriversofdiseasesuchasantibodiestotheC3convertase,factorHandfactorBprovidesametrictofollowapatient’sclinicalcourse.

A G R P

Spectrumofvariantsidenti iedusingtheGeneticRenalPanelHigh‐ThroughputGeneticTestingforThromboticMicroangiopathiesandC3Glomerulopathies,FengxiaoBuet.al,JAmSocNephrol27:1245–1253,2016.doi:10.1681/ASN.2015040385

Disease Group

Genetictestingprovidesimportantanswerstomanyquestions.Informationcanbeprovidedonrecurrencerisk,prognosis(whetheratransplantmightbesuccessfulorwhattypeoftransplantisnecessary,i.e.kidneyonlyorliver/kidney),andbestmethodsoftreatment.