HerediT UNIVERSAL Provider Brochure Jun. 2015

8/18/2019 HerediT UNIVERSAL Provider Brochure Jun. 2015

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Comprehensive genetic carrier screening

QUALITY OF SCIENCE

REVEALING THE UNKNOWN


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At Sequenom Laboratories, we believe science canbe revealing, knowledge is the key to planning, andinformation is empowering.

INFORMATION THAT EMPOWERS


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CLEARLY DEFINED RESULTS. CLEARLY DEFINED RISKS.

The HerediT UNIVERSAL test screens for the most clinicallyrelevant and impactful genetic conditions. Each condition isselected based on carrier rate, clinical severity, and availabilityof treatment options. The results are categorized into the

following groups to help with interpretation and counseling:

The HerediT UNIVERSAL Carrier Screening test was developedto provide broad information, allow for exibility, and enableinformed decision-making by you and your patient.

HEREDITUNIVERSAL

OTHER CARRIERSCREENING

TESTS

DISEASES DISEASEDISEASES

TRADITIONALSINGLE GENE

SCREENING

>250


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Comprehensive andcustomizable panels to meeteach patient’s unique needs

COMPREHENSIVE GENETIC COUNSELING SERVICES

Genetic counseling is essential for any patient found to be a mutation-carrier for a genetic disorder. Through its collaborationwith Sequenom Laboratories, Recombine will provide a genetic counseling session for those patients that screen positive, andthis service is included in the cost of the test. It aids the patient in medical comprehension and enhances patient satisfactionby providing access to experts who are skilled at explaining genetic risks in terms patients can understand. Best of all, thisgenetic counseling session allows you to increase the excellence of care your patients receive.

This in-depth, genetic counseling session with a board-certied genetic counselor includes:

EXEMPLARY CUSTOMER SERVICE

• Consistent, knowledgeable and attentive support from one ofour sales representatives

• In-house billing solutions. We enable the patient and billingassociate discussion by not relying on outside vendors

• Fast, accurate results; expect the same efficient turnaround asother Sequenom Laboratories laboratory-developed tests

• Personalized attention; when you need live assistance, wehave the clinical, sales, billing, and laboratory personnelto address your needs with the highest at tention to yoursatisfaction

MORE CHOICES FOR YOUR PATIENTS

Not certain if your patient wants or needs universal carrier testing?Prefer the simplicity of a single gene test for cystic brosis? Relyon the HerediT Cystic Fibrosis screening to meet your needs.

• Aligned with the world-renowned CFTR2 database

• >90% of the mutations on the panel are disease-causing,unlike other cystic brosis mutation detection tests

• Complimentary testing of partner when a carrier is identied

CUSTOMIZABLE TO MEET YOUR PATIENTS’ NEEDS

We offer three options for your convenience:

COMPLETEPANEL

The comprehensive optiondesigned to test for mutations inover 250 genetic disorders

STANDARDPANEL

Tests for disorders guided by ACOGand ACMG recommendations

JEWISHANCESTRYPANEL

Tests for over 65 conditions commonin the Ashkenazi and Sephardicpopulations

• Three-generation hereditary risk assessment• Discussion of any positive results• Reproductive risk assessment

• Partner testing options• Reproductive options• Consultation letter


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11-Beta-Hydroxylase-DecientCongenital Adrenal Hyperplasia

17-Alpha Hydroxylase Deciency

17-Beta HydroxysteroidDehydrogenase 3 Deciency

21-Hydroxylase-Decient ClassicalCongenital Adrenal Hyperplasia †

21-Hydroxylase-DecientNonclassical Congenital AdrenalHyperplasia †

3-Beta-HydroxysteroidDehydrogenase Deciency

3-Methylcrotonyl-CoACarboxylase Deciency:MCCA Related

3-Methylcrotonyl-CoACarboxylase Deciency:MCCB Related

3-Methylglutaconic Aciduria:Type 3 †

3-PhosphoglycerateDehydrogenase Deciency

5-Alpha Reductase Deciency

6-Pyruvoyl-TetrahydropterinSynthase Deciency

Abetalipoproteinemia †

Achromatopsia: CNGB3 Related

Acrodermatitis Enteropathica

Acyl-CoA Oxidase I Deciency

Adenosine Deaminase Deciency

Adrenoleukodystrophy: X-Linked

Alkaptonuria

Alpha Thalassemia [ACOG] * †

Alpha-1-Antitrypsin Deciency

Alpha-Mannosidosis

Alport Syndrome: COL4A3 Related

Alport Syndrome: COL4A4 Related

Alport Syndrome: X-linkedAmegakaryocyticThrombocytopenia †

Andermann Syndrome

Androgen Insensitivity Syndrome:Complete

Antley-Bixler Syndrome

Argininosuccinate LyaseDeciency

Aromatase Deciency

ARSACS

Arts Syndrome

Aspartylglycosaminuria

Ataxia with Vitamin E Deciency

Ataxia-Telangiectasia †

Autosomal Recessive PolycysticKidney Disease

Bardet-Biedl Syndrome:BBS1 Related


Bardet-Biedl Syndrome:

BBS10 RelatedBardet-Biedl Syndrome:BBS11 Related


Bare Lymphocyte Syndrome:Type II

Bartter Syndrome: Type 4A

Beta Thalassemia [ACOG] * †

Beta-HexosaminidasePseudodeciency †

Beta-Ketothiolase Deciency

Biotinidase Deciency

Bloom Syndrome [ACMG] * †

Canavan Disease [ACOG/ACMG] * †

Carnitine Palmitoyltransferase IADeciency

Carnitine Palmitoyltransferase IIDeciency †

Carpenter Syndrome

Cartilage-Hair Hypoplasia

Cerebrotendinous Xanthomatosis †

Charcot-Marie-Tooth Disease withDeafness: X-Linked: GJB1 Related

Charcot-Marie-Tooth Disease withDeafness: X-Linked: PRPS1 Related

Cholesteryl Ester Storage Disease

Choreoacanthocytosis †

Choroideremia

Chronic Granulomatous Disease:X-Linked

Citrullinemia: Type I

Classical Galactosemia †

Cohen Syndrome

Combined Pituitary HormoneDeciency: PROP1 Related

Congenital Disorder ofGlycosylation: Type 1A:PMM2 Related

Congenital Disorder ofGlycosylation: Type 1B: MPI Related

Congenital Disorder ofGlycosylation: Type 1C:ALG6 Related

Congenital Lipoid AdrenalHyperplasia

Congenital Neutropenia:Recessive

Copper Transport Disorders

Corneal Dystrophy and PerceptiveDeafness

Corticosterone MethyloxidaseDeciency †

Creatine Transporter Defect

Crigler-Najjar Syndrome

Cystic Fibrosis [ACOG/ACMG] * †

Cystinosis

D-Bifunctional Protein Deciency

Diabetes: Recessive PermanentNeonatal

Dihydropyrimidine DehydrogenaseDeciency

Du Pan Syndrome

Dystrophic EpidermolysisBullosa: Recessive

Ehlers-Danlos Syndrome: Type VIIC

Ellis-van Creveld Syndrome:EVC Related

Ellis-van Creveld Syndrome:EVC2 Related

Emery-Dreifuss Myopathy:X-Linked

Enhanced S-Cone

Ethylmalonic Aciduria

Fabry’s Disease

Factor IX Deciency

Factor VIII DeciencyFamilial Chloride Diarrhea

Familial Dysautonomia [ACOG/ACMG] * †

Familial Hyperinsulinism: Type 1:ABCC8 Related †

Familial Hyperinsulinism: Type 2:KCNJ11 Related

Familial Mediterranean Fever †

Familial Mediterranean Fever:Mild Form †

Fanconi Anemia: Type A

Fanconi Anemia: Type C [ACMG] *

Fanconi Anemia: Type G

Fanconi Anemia: Type J

Fragile X Syndrome * †

Fumarase Deciency

Galactokinase Deciency

Gaucher Disease [ACMG] * †

Gitelman Syndrome

Globoid Cell Leukodystrophy

Glucose-6-PhosphateDehydrogenase Deciency †

Glutaric Acidemia: Type I

Glycine Encephalopathy:AMT Related

Glycine Encephalopathy:GLDC Related

Glycogen Storage Disease:Type IA †

Glycogen Storage Disease:Type IB

Glycogen Storage Disease:Type II

Glycogen Storage Disease:

Type III†

Glycogen Storage Disease:Type IV †

Glycogen Storage Disease:Type V

Glycogen Storage Disease:Type VII †

GM1-Gangliosidoses

GRACILE Syndrome

GuanidinoacetateMethyltransferase Deciency

Hemochromatosis: Type 2A:HFE2 Related

Hemochromatosis: Type 3:TFR2 RelatedHemoglobinopathy: Hb C [ACOG] *

Hemoglobinopathy: Hb D[ACOG] * †

Hemoglobinopathy: Hb E[ACOG] * †

Hemoglobinopathy: Hb O[ACOG] * †

Hereditary Fructose Intolerance

Herlitz Junctional EpidermolysisBullosa: LAMB3 Related

DISEASE LISTThe following diseases are included in the HerediT UNIVERSAL test.* Standard panel †Jewish Ancestry Panel [ACOG] = Recommended by ACOG [ACMG] = Recommended by ACMGGene specic sequencing is available for most disorders.


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Hermansky-Pudlak Syndrome:Type 1

Hermansky-Pudlak Syndrome:Type 3

HMG-CoA Lyase Deciency

Holocarboxylase SynthetaseDeciency

Homocystinuria Caused by CBSDeciency

Hunter Syndrome

Hurler Syndrome†

Hypohidrotic EctodermalDysplasia: X-Linked

Hypophosphatasia

Inclusion Body Myopathy: Type 2 †

Isovaleric Acidemia

Joubert Syndrome †

Juvenile Retinoschisis: X-Linked

Lamellar Ichthyosis: Type 1

LaryngoonychocutaneousSyndrome

Leber Congenital Amaurosis:CEP290 Related

Leber Congenital Amaurosis:GUCY2D Related

Leber Congenital Amaurosis:LCA5 Related

Leber Congenital Amaurosis:RDH12 Related

Leigh Syndrome: French- Canadian

Leydig Cell Hypoplasia

Limb-Girdle Muscular Dystrophy:Type 2A

Limb-Girdle Muscular Dystrophy:Type 2B

Limb-Girdle Muscular Dystrophy:Type 2C

Limb-Girdle Muscular Dystrophy:Type 2D

Limb-Girdle Muscular Dystrophy:Type 2E

Limb-Girdle Muscular Dystrophy:Type 2F

Limb-Girdle Muscular Dystrophy:Type 2I

Lipoprotein Lipase Deciency

Long-Chain 3-Hydroxyacyl-CoADehydrogenase Deciency

Lysinuric Protein Intolerance

Maple Syrup Urine Disease:Type 1A

Maple Syrup Urine Disease:Type 1B †

Maple Syrup Urine Disease:Type 3 †

Meckel Syndrome: Type 1

Medium-Chain Acyl-CoADehydrogenase Deciency

Metachromatic Leukodystrophy †

Methylmalonic Acidemia:MMAA Related

Methylmalonic Acidemia:MMAB Related

Methylmalonic Acidemia:MUT Related

Methylmalonic Aciduria andHomocystinuria: Type cblC

MTHFR Deciency: Severe †

Mucolipidosis: Type II/III

Mucolipidosis: Type IV [ACMG] * †

Multiple Pterygium Syndrome

Multiple Sulfatase Deciency

Muscle-Eye-Brain Disease

Myotubular Myopathy: X-Linked

Navajo Neurohepatopathy

Nemaline Myopathy: NEB Related †

Nephrotic Syndrome: Type 1

Nephrotic Syndrome: Type 2

Neuronal Ceroid-Lipofuscinosis:CLN3 Related




Neuronal Ceroid-Lipofuscinosis:MFSD8 Related

Neuronal Ceroid-Lipofuscinosis:PPT1 Related

Neuronal Ceroid-Lipofuscinosis:TPP1 Related

Niemann-Pick Disease: Type A[ACMG]* †

Niemann-Pick Disease: Type B

Niemann-Pick Disease: Type C1

Niemann-Pick Disease: Type C2

Nijmegen Breakage Syndrome

Nonsyndromic Hearing Loss andDeafness: DFNB3 Related

Nonsyndromic Hearing Loss andDeafness: GJB2 Related †

Oculocutaneous Albinism: Type 1

Oculocutaneous Albinism: Type 4

Omenn Syndrome

Ornithine TranscarbamylaseDeciency

Ornithine Translocase Deciency

Pendred SyndromePersistent Mullerian DuctSyndrome: Type I

Persistent Mullerian DuctSyndrome: Type II

Phenylalanine HydroxylaseDeciency †

POLG Related Disorders: AutosomalRecessive

Polyglandular AutoimmuneSyndrome: Type 1 †

Primary Carnitine Deciency

Primary Hyperoxaluria: Type 1

Primary Hyperoxaluria: Type 2

Primary Hyperoxaluria: Type 3 †

Progressive Familial IntrahepaticCholestasis: Type 2

Propionic Acidemia: PCCA Related

Propionic Acidemia: PCCB Related

Pseudocholinesterase Deciency †

Pycnodysostosis

Pyruvate DehydrogenaseDeciency: Autosomal Recessive

Pyruvate DehydrogenaseDeciency: X-Linked

Retinal Dystrophies: RLBP1 Related

Retinitis Pigmentosa: AutosomalRecessive: DHDDS Related †

Rhizomelic ChondrodysplasiaPunctata: Type 1

Salla Disease

Sandhoff Disease

Sanlippo Syndrome: Type A

Sanlippo Syndrome: Type B

Sanlippo Syndrome: Type C

Sanlippo Syndrome: Type D

SCID: X-Linked

Short-Chain Acyl-CoADehydrogenase Deciency †

Sickle-Cell Anemia [ACOG] * †

Sjogren-Larsson Syndrome

Smith-Lemli-Opitz Syndrome

Spinal Muscular Atrophy: SMN1Related [ACMG] * †

Stargardt Disease

Stuve-Wiedemann Syndrome

Sulfate Transporter-Related

OsteochondrodysplasiaTay-Sachs Disease [ACOG/ACMG] * †

Tyrosine Hydroxylase Deciency

Tyrosinemia: Type I †

Usher Syndrome: Type 1B

Usher Syndrome: Type 1C

Usher Syndrome: Type 1D

Usher Syndrome: Type 1F †

Usher Syndrome: Type 2A

Usher Syndrome: Type 3 †

Very Long-Chain Acyl-CoADehydrogenase Deciency

Walker-Warburg Syndrome †

Werner Syndrome

Wilson Disease

Wolcott-Rallison Syndrome

Zellweger Spectrum Disorders:PEX1 Related





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Sequenom Laboratories3595 John Hopkins Court

San Diego, CA 92121

[email protected]/laboratories

Toll Free (within the US) at

877.821.7266

31-20500R2.0 0615

ABOUT THE COMPANY

Sequenom Laboratories, a whollyowned subsidiary of Sequenom, Inc.,is a CAP-accredited and ClinicalLaboratory Improvement Amendment(CLIA) certied molecular diagnosticslaboratory dedicated to improvingpatient outcomes by offeringrevolutionary laboratory-developedtests for a variety of prenatal conditions.Sequenom Laboratories pioneered NIPTwith the launch of it s MaterniT21 PLUStest for fetal abnormalities, and offers abroad menu of prenatal tests.

Sequenom®, Sequenom Laboratories™,and HerediT® are trademarks ofSequenom, Inc. and used withpermission by Sequenom Center forMolecular Medicine, LLC, dba SequenomLaboratories.

©2015 Sequenom Laboratories.All rights reserved.

ABOUT THE TESTS

HerediT® Carrier Screening tests are laboratory-developed tests thatwere validated under Federal CLIA laboratory guidelines. The HerediTCF test is performed exclusively by Sequenom Laboratories, a CAP-accredited and CLIA-certied laboratory. The HerediT UNIVERSAL test isperformed exclusively by Reprogenetics, a CLIA-certied laboratory, andavailable through contract with Sequenom Laboratories. The tests havenot been cleared or approved by the U.S. Food and Drug Administration(FDA). Although laboratory-developed tests to date have not been subjectto U.S. FDA regulation, certication of the laboratory is required under theClinical Laboratory Improvement Amendments (CLIA) to ensure the qualityand validity of the test. Sequenom Laboratories and Reprogenetics arecertied to perform high complexity clinical laboratory testing.

No test is perfect. While results of this testing are highly accurate, anegative result signicantly reduces but does not eliminate the chanceof being a carrier. The results of this testing, including the benets andlimitations, should be discussed with your patients. A patient with apositive test result should be referred for genetic counseling and furtherevaluation. The patient’s reproductive partner and at-risk family membersmay also be tested.

The HerediT® UNIVERSAL tests are p erformed exclusively by Reprogenetics, a CLIAcertied laboratory, and available through contract with Sequenom Laboratories.Bioinformatics is performed by Recombine.

Documents

HerediT UNIVERSAL Provider Brochure Jun. 2015