REVEALING THE UNKNOWN

Comprehensive genetic carrier screening

QUALITY OF SCIENCE

INFORMATION THAT EMPOWERS

At Sequenom Laboratories, we believe science can
be revealing, knowledge is the key to planning, and
information is empowering.

REVEALING THE UNKNOWN

The HerediT UNIVERSAL Carrier Screening test was developed

to provide broad information, allow for flexibility, and enable
informed decision-making by you and your patient.

HEREDIT
UNIVERSAL

OTHER CARRIER
SCREENING
TESTS

TRADITIONAL
SINGLE-GENE
SCREENING

CLEARLY DEFINED RESULTS. CLEARLY DEFINED RISKS.

The HerediT UNIVERSAL test screens for the most clinically
relevant and impactful genetic conditions. Each condition is
selected based on carrier rate, clinical severity, and availability
of treatment options. The results are categorized into the
following groups to help with interpretation and counseling:
HIGH IMPACT
These disorders have a significant impact on life
expectancy and quality of life
MODERATE IMPACT
These disorders typically do not affect life
expectancy, but can affect quality of life
X-LINKED
These disorders are passed down by female
carriers. Carriers may have symptoms

>250

DISEASES

<110

DISEASES

DISEASE

COMPREHENSIVE COVERAGE
The HerediT UNIVERSAL test screens for mutations
associated with over 250 genetic disorders. This provides
you and your patient more opportunities to identify
potential hereditary risks.

ANSWERS THAT MATTER

190 disorders associated with physical impairment
125 disorders associated with shortened lifespan
95 disorders associated with cognitive impairment

TREATMENT BENEFITS
Treatment lessens disease symptoms. Newborn
screening may be available for timely intervention

CUSTOMIZABLE TO MEET YOUR PATIENTS NEEDS

We offer three options for your convenience:

COMPLETE
PANEL

STANDARD
PANEL

The comprehensive option

designed to test for mutations in
over 250 genetic disorders

Tests for disorders guided by ACOG

and ACMG recommendations

EXEMPLARY CUSTOMER SERVICE

Consistent, knowledgeable and attentive support from one of
our sales representatives
In-house billing solutions. We enable the patient and billing
associate discussion by not relying on outside vendors
Fast, accurate results; expect the same efficient turnaround as
other Sequenom Laboratories laboratory-developed tests
Personalized attention; when you need live assistance, we
have the clinical, sales, billing, and laboratory personnel
to address your needs with the highest attention to your
satisfaction

MORE CHOICES FOR YOUR PATIENTS

JEWISH
ANCESTRY
PANEL

Tests for over 65 conditions common

in the Ashkenazi and Sephardic
populations

Not certain if your patient wants or needs universal carrier testing?

Prefer the simplicity of a single gene test for cystic fibrosis? Rely
on 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 fibrosis mutation detection tests
Complimentary testing of partner when a carrier is identified

COMPREHENSIVE GENETIC COUNSELING SERVICES

Genetic counseling is essential for any patient found to be a mutation-carrier for a genetic disorder. Through its collaboration
with Sequenom Laboratories, Recombine will provide a genetic counseling session for those patients that screen positive, and
this service is included in the cost of the test. It aids the patient in medical comprehension and enhances patient satisfaction
by providing access to experts who are skilled at explaining genetic risks in terms patients can understand. Best of all, this
genetic counseling session allows you to increase the excellence of care your patients receive.
This in-depth, genetic counseling session with a board-certified genetic counselor includes:
Three-generation hereditary risk assessment
Discussion of any positive results
Reproductive risk assessment

Partner testing options

Reproductive options
Consultation letter

Comprehensive and
customizable panels to meet
each patients unique needs

DISEASE LIST
The following diseases are included in the HerediT UNIVERSAL test.
*Standard panel Jewish Ancestry Panel [ACOG] = Recommended by ACOG [ACMG] = Recommended by ACMG
Gene specific sequencing is available for most disorders.
11-Beta-Hydroxylase-Deficient
Congenital Adrenal Hyperplasia

Aspartylglycosaminuria
Ataxia with Vitamin E Deficiency

17-Alpha Hydroxylase Deficiency

Ataxia-Telangiectasia

17-Beta Hydroxysteroid
Dehydrogenase 3 Deficiency

Autosomal Recessive Polycystic

Kidney Disease

21-Hydroxylase-Deficient Classical
Congenital Adrenal Hyperplasia

Bardet-Biedl Syndrome:
BBS1 Related

21-Hydroxylase-Deficient
Nonclassical Congenital Adrenal
Hyperplasia
3-Beta-Hydroxysteroid
Dehydrogenase Deficiency
3-Methylcrotonyl-CoA
Carboxylase Deficiency:
MCCA Related
3-Methylcrotonyl-CoA
Carboxylase Deficiency:
MCCB Related

Bardet-Biedl Syndrome:
BBS2 Related
Bardet-Biedl Syndrome:
BBS10 Related
Bardet-Biedl Syndrome:
BBS11 Related
Bardet-Biedl Syndrome:
BBS12 Related

Congenital Disorder of
Glycosylation: Type 1B: MPI Related

Fanconi Anemia: Type C [ACMG] *

Congenital Disorder of
Glycosylation: Type 1C:
ALG6 Related

Fanconi Anemia: Type J

Congenital Lipoid Adrenal

Hyperplasia

Fumarase Deficiency

Congenital Neutropenia:
Recessive

Gaucher Disease [ACMG] *

Copper Transport Disorders

Globoid Cell Leukodystrophy

Corneal Dystrophy and Perceptive

Deafness

Glucose-6-Phosphate
Dehydrogenase Deficiency

Corticosterone Methyloxidase
Deficiency

Glutaric Acidemia: Type I

Creatine Transporter Defect

Fanconi Anemia: Type G

Fragile X Syndrome*
Galactokinase Deficiency
Gitelman Syndrome

Glycine Encephalopathy:
AMT Related

Bare Lymphocyte Syndrome:

Type II

Crigler-Najjar Syndrome

3-Methylglutaconic Aciduria:
Type 3

Bartter Syndrome: Type 4A

Cystinosis

Beta Thalassemia [ACOG] *

D-Bifunctional Protein Deficiency

Glycogen Storage Disease:

Type IA

3-Phosphoglycerate
Dehydrogenase Deficiency

Beta-Hexosaminidase
Pseudodeficiency

Diabetes: Recessive Permanent

Neonatal

Glycogen Storage Disease:

Type IB

5-Alpha Reductase Deficiency

Beta-Ketothiolase Deficiency

6-Pyruvoyl-Tetrahydropterin
Synthase Deficiency

Biotinidase Deficiency

Dihydropyrimidine Dehydrogenase
Deficiency

Glycogen Storage Disease:

Type II

Du Pan Syndrome

Abetalipoproteinemia

Bloom Syndrome [ACMG] *

Canavan Disease [ACOG/ACMG] *

Dystrophic Epidermolysis
Bullosa: Recessive

Glycogen Storage Disease:

Type III

Achromatopsia: CNGB3 Related

Acrodermatitis Enteropathica

Carnitine Palmitoyltransferase IA
Deficiency

Cystic Fibrosis [ACOG/ACMG] *

Ehlers-Danlos Syndrome: Type VIIC

Adenosine Deaminase Deficiency

Carnitine Palmitoyltransferase II
Deficiency

Ellis-van Creveld Syndrome:

EVC Related

Adrenoleukodystrophy: X-Linked

Carpenter Syndrome

Alkaptonuria

Cartilage-Hair Hypoplasia

Ellis-van Creveld Syndrome:

EVC2 Related

Acyl-CoA Oxidase I Deficiency

Glycine Encephalopathy:
GLDC Related

Glycogen Storage Disease:

Type IV
Glycogen Storage Disease:
Type V
Glycogen Storage Disease:
Type VII
GM1-Gangliosidoses

Cerebrotendinous Xanthomatosis

Emery-Dreifuss Myopathy:
X-Linked

Charcot-Marie-Tooth Disease with

Deafness: X-Linked: GJB1 Related

Enhanced S-Cone

Alport Syndrome: COL4A3 Related

Charcot-Marie-Tooth Disease with

Deafness: X-Linked: PRPS1 Related

Fabrys Disease

Alport Syndrome: COL4A4 Related

Cholesteryl Ester Storage Disease

Factor IX Deficiency

Alport Syndrome: X-linked

Choreoacanthocytosis

Factor VIII Deficiency

Hemochromatosis: Type 3:
TFR2 Related

Choroideremia

Familial Chloride Diarrhea

Hemoglobinopathy: Hb C [ACOG]*

Andermann Syndrome

Chronic Granulomatous Disease:

X-Linked

Familial Dysautonomia [ACOG/

ACMG] *

Hemoglobinopathy: Hb D
[ACOG] *

Androgen Insensitivity Syndrome:

Complete

Citrullinemia: Type I

Familial Hyperinsulinism: Type 1:

ABCC8 Related

Hemoglobinopathy: Hb E
[ACOG] *

Cohen Syndrome

Familial Hyperinsulinism: Type 2:

KCNJ11 Related

Combined Pituitary Hormone

Deficiency: PROP1 Related

Hemoglobinopathy: Hb O
[ACOG] *

Familial Mediterranean Fever

Hereditary Fructose Intolerance

Familial Mediterranean Fever:

Mild Form

Herlitz Junctional Epidermolysis

Bullosa: LAMB3 Related

Alpha Thalassemia [ACOG] *

Alpha-1-Antitrypsin Deficiency
Alpha-Mannosidosis

Amegakaryocytic
Thrombocytopenia

Antley-Bixler Syndrome
Argininosuccinate Lyase
Deficiency
Aromatase Deficiency
ARSACS
Arts Syndrome

Classical Galactosemia

Congenital Disorder of
Glycosylation: Type 1A:
PMM2 Related

Ethylmalonic Aciduria

Fanconi Anemia: Type A

GRACILE Syndrome
Guanidinoacetate
Methyltransferase Deficiency
Hemochromatosis: Type 2A:
HFE2 Related

Hermansky-Pudlak Syndrome:
Type 1

Maple Syrup Urine Disease:

Type 1A

Nonsyndromic Hearing Loss and

Deafness: DFNB3 Related

Short-Chain Acyl-CoA
Dehydrogenase Deficiency

Hermansky-Pudlak Syndrome:
Type 3

Maple Syrup Urine Disease:

Type 1B

Nonsyndromic Hearing Loss and

Deafness: GJB2 Related

Sickle-Cell Anemia [ACOG] *

HMG-CoA Lyase Deficiency

Maple Syrup Urine Disease:

Type 3

Oculocutaneous Albinism: Type 1

Smith-Lemli-Opitz Syndrome

Oculocutaneous Albinism: Type 4

Meckel Syndrome: Type 1

Omenn Syndrome

Spinal Muscular Atrophy: SMN1

Related [ACMG] *

Homocystinuria Caused by CBS

Deficiency

Medium-Chain Acyl-CoA
Dehydrogenase Deficiency

Stargardt Disease

Hunter Syndrome

Metachromatic Leukodystrophy

Ornithine Transcarbamylase
Deficiency

Hurler Syndrome

Ornithine Translocase Deficiency

Methylmalonic Acidemia:
MMAA Related

Sulfate Transporter-Related
Osteochondrodysplasia

Holocarboxylase Synthetase
Deficiency

Hypohidrotic Ectodermal
Dysplasia: X-Linked
Hypophosphatasia
Inclusion Body Myopathy: Type 2
Isovaleric Acidemia

Methylmalonic Acidemia:
MMAB Related
Methylmalonic Acidemia:
MUT Related

Pendred Syndrome
Persistent Mullerian Duct
Syndrome: Type I
Persistent Mullerian Duct
Syndrome: Type II
Phenylalanine Hydroxylase
Deficiency

Sjogren-Larsson Syndrome

Stuve-Wiedemann Syndrome

Tay-Sachs Disease [ACOG/ACMG] *

Tyrosine Hydroxylase Deficiency
Tyrosinemia: Type I
Usher Syndrome: Type 1B
Usher Syndrome: Type 1C

Joubert Syndrome

Methylmalonic Aciduria and

Homocystinuria: Type cblC

Juvenile Retinoschisis: X-Linked

MTHFR Deficiency: Severe

POLG Related Disorders: Autosomal

Recessive

Usher Syndrome: Type 1D

Mucolipidosis: Type II/III

Lamellar Ichthyosis: Type 1

Usher Syndrome: Type 1F

Laryngoonychocutaneous
Syndrome

Mucolipidosis: Type IV [ACMG] *

Polyglandular Autoimmune
Syndrome: Type 1

Usher Syndrome: Type 2A

Leber Congenital Amaurosis:

CEP290 Related

Multiple Pterygium Syndrome

Primary Carnitine Deficiency

Multiple Sulfatase Deficiency

Primary Hyperoxaluria: Type 1

Very Long-Chain Acyl-CoA

Dehydrogenase Deficiency

Leber Congenital Amaurosis:

GUCY2D Related

Muscle-Eye-Brain Disease

Primary Hyperoxaluria: Type 2

Walker-Warburg Syndrome

Myotubular Myopathy: X-Linked

Primary Hyperoxaluria: Type 3

Werner Syndrome

Leber Congenital Amaurosis:

LCA5 Related

Navajo Neurohepatopathy

Progressive Familial Intrahepatic

Cholestasis: Type 2

Wilson Disease

Nephrotic Syndrome: Type 1

Propionic Acidemia: PCCA Related

Nephrotic Syndrome: Type 2

Propionic Acidemia: PCCB Related

Zellweger Spectrum Disorders:

PEX1 Related

Leydig Cell Hypoplasia

Neuronal Ceroid-Lipofuscinosis:
CLN3 Related

Pycnodysostosis

Zellweger Spectrum Disorders:

PEX2 Related

Limb-Girdle Muscular Dystrophy:

Type 2A

Neuronal Ceroid-Lipofuscinosis:
CLN5 Related

Pyruvate Dehydrogenase
Deficiency: Autosomal Recessive

Zellweger Spectrum Disorders:

PEX6 Related

Limb-Girdle Muscular Dystrophy:

Type 2B

Neuronal Ceroid-Lipofuscinosis:
CLN6 Related

Pyruvate Dehydrogenase
Deficiency: X-Linked

Zellweger Spectrum Disorders:

PEX10 Related

Limb-Girdle Muscular Dystrophy:

Type 2C

Neuronal Ceroid-Lipofuscinosis:
CLN8 Related

Retinal Dystrophies: RLBP1 Related

Limb-Girdle Muscular Dystrophy:

Type 2D

Neuronal Ceroid-Lipofuscinosis:
MFSD8 Related

Limb-Girdle Muscular Dystrophy:

Type 2E

Neuronal Ceroid-Lipofuscinosis:
PPT1 Related

Limb-Girdle Muscular Dystrophy:

Type 2F

Neuronal Ceroid-Lipofuscinosis:
TPP1 Related

Sandhoff Disease

Limb-Girdle Muscular Dystrophy:

Type 2I

Niemann-Pick Disease: Type A

[ACMG] *

Sanfilippo Syndrome: Type B

Lipoprotein Lipase Deficiency

Niemann-Pick Disease: Type B

Sanfilippo Syndrome: Type C

Long-Chain 3-Hydroxyacyl-CoA
Dehydrogenase Deficiency

Niemann-Pick Disease: Type C1

Sanfilippo Syndrome: Type D

Niemann-Pick Disease: Type C2

SCID: X-Linked

Leber Congenital Amaurosis:

RDH12 Related
Leigh Syndrome: French- Canadian

Lysinuric Protein Intolerance

Nemaline Myopathy: NEB Related

Nijmegen Breakage Syndrome

Pseudocholinesterase Deficiency

Retinitis Pigmentosa: Autosomal

Recessive: DHDDS Related
Rhizomelic Chondrodysplasia
Punctata: Type 1
Salla Disease
Sanfilippo Syndrome: Type A

Usher Syndrome: Type 3

Wolcott-Rallison Syndrome

QUALITY OF SCIENCE

ABOUT THE COMPANY

ABOUT THE TESTS

Sequenom Laboratories, a wholly

owned subsidiary of Sequenom, Inc.,
is a CAP-accredited and Clinical
Laboratory Improvement Amendment
(CLIA) certified molecular diagnostics
laboratory dedicated to improving
patient outcomes by offering
revolutionary laboratory-developed
tests for a variety of prenatal conditions.
Sequenom Laboratories pioneered NIPT
with the launch of its MaterniT21 PLUS
test for fetal abnormalities, and offers a
broad menu of prenatal tests.

HerediT Carrier Screening tests are laboratory-developed tests that

were validated under Federal CLIA laboratory guidelines. The HerediT
CF test is performed exclusively by Sequenom Laboratories, a CAPaccredited and CLIA-certified laboratory. The HerediT UNIVERSAL test is
performed exclusively by Reprogenetics, a CLIA-certified laboratory, and
available through contract with Sequenom Laboratories. The tests have
not been cleared or approved by the U.S. Food and Drug Administration
(FDA). Although laboratory-developed tests to date have not been subject
to U.S. FDA regulation, certification of the laboratory is required under the
Clinical Laboratory Improvement Amendments (CLIA) to ensure the quality
and validity of the test. Sequenom Laboratories and Reprogenetics are
certified to perform high complexity clinical laboratory testing.

Sequenom, Sequenom Laboratories,

and HerediT are trademarks of
Sequenom, Inc. and used with
permission by Sequenom Center for
Molecular Medicine, LLC, dba Sequenom
Laboratories.

No test is perfect. While results of this testing are highly accurate, a

negative result significantly reduces but does not eliminate the chance
of being a carrier. The results of this testing, including the benefits and
limitations, should be discussed with your patients. A patient with a
positive test result should be referred for genetic counseling and further
evaluation. The patients reproductive partner and at-risk family members
may also be tested.

2015 Sequenom Laboratories.

All rights reserved.

The HerediT UNIVERSAL tests are performed exclusively by Reprogenetics, a CLIA

certified laboratory, and available through contract with Sequenom Laboratories.
Bioinformatics is performed by Recombine.

Sequenom Laboratories
3595 John Hopkins Court
San Diego, CA 92121
info@sequenom.com
sequenom.com/laboratories

Toll Free (within the US) at

877.821.7266

31-20500R2.0 0615