1. GeneVu.
INSIGHT YOUR
PATIENTS NEED
TO BE READY FOR
TOMORROW.
GeneVu Comprehensive was designed
for all patients to provide insight on the most
relevant disorders. This unique, pan-ethnic
expanded panel includes:
• Severe and prevalent disorders seen across all ethnicities
• All ACOG and ACMG recommended disorders
• X-linked disorders, including Duchenne Muscular Dystrophy
• Newborn screening disorders
• Enhanced SMA testing to help identify silent carriers
• The extended panel of Ashkenazi Jewish disorders
recommended by national Jewish societies
About GeneVu Carrier Screening:
• Testing performed by next generation sequencing and
other technologies, leading to high detection rates
• Actionable results; no reporting of variants of
unknown significance
• Complimentary PGD and PGS for qualified carrier couples
Client support that makes
carrier screening easier.
• Our board-certified genetic counselors are a valuable resource
> Counselors are trained to help patients thoroughly
understand their test results
> Counselors consult directly with clinicians and counsel
patients to ensure that our tests deliver actionable,
personalized insights
• We partner with you to streamline the administrative work flow,
making it easier for you to order our tests and receive test results
• Our Good Start Assist payment solutions are designed to
accommodate individual patient needs
More and more patients are
unaware of their true genetic
makeup, making it harder for
clinicians to choose which
ethnic-based carrier tests
are appropriate.
GeneVu™
Comprehensive is
an expanded carrier screening
panel that has been thoughtfully
curated to provide actionable
results for the most relevant
disorders.
GeneVu Comprehensive:
Responsible Carrier Screening

2. These tests were developed and their performance characteristics determined by a laboratory that is regulated under the
Clinical Laboratory Improvement Amendments (CLIA) as qualified to perform high-complexity clinical testing and the tests have been
analytically validated in accordance with CLIA standards. They have not been cleared or approved by the US Food and Drug Administration.
Good Start Genetics, GeneVuTM
and EmbryVuTM
are registered or unregistered marks of Good Start Genetics, Inc.
© 2016 Good Start Genetics®
, Inc. All Rights Reserved.
GVC-ESC130
Abetalipoproteinemia (MTTP)
Adenosine Deaminase Deficiency
(ADA)
Adrenoleukodystrophy, X-­linked
(ABCD1)
Alpha-­Thalassemia (HBA1/HBA2)
Alpha-­Thalassemia Mental
Retardation Syndrome (ATRX)
Alport Syndrome (COL4A3)
Alport Syndrome (COL4A4)
Alport Syndrome (COL4A5)
Argininosuccinic Aciduria (ASL)
Arthrogryposis, Mental Retardation,
and Seizures (SLC35A3)
Ataxia Telangiectasia (ATM)
Bardet-­Biedl Syndrome (BBS1)
Bardet-­Biedl Syndrome (BBS2)
Bardet-­Biedl Syndrome (BBS10)
Beta-­Globin Related
Hemoglobinopathies: Beta-
Thalassemia/Sickle Cell Disease
(HBB)
Biotinidase Deficiency (BTD)
Bloom Syndrome (BLM)
Canavan Disease (ASPA)
Carnitine Palmitoyltransferase II
Deficiency (CPT2)
Cerebral Creatine Deficiency
Syndrome 1 (SLC6A8)
Cerebrotendinous Xanthomatosis
(CYP27A1)
Choroideremia (CHM)
Chronic Granulomatous Disease
(CYBB)
Citrullinemia, Type 1 (ASS1)
Combined Pituitary Hormone
Deficiency 2 (PROP1)
Congenital Amegakaryocytic
Thrombocytopenia (MPL)
Congenital Disorder of Glycosylation,
Type Ia (PMM2)
Cystic Fibrosis (CFTR)
Cystinosis (CTNS)
D-­Bifunctional Protein Deficiency
(HSD17B4)
Duchenne Muscular Dystrophy/
Becker Muscular Dystrophy (DMD)
Dyskeratosis Congenita (RTEL1)
Dystrophic Epidermolysis Bullosa
(COL7A1)
Ehlers-­Danlos Syndrome, Type VIIC
(ADAMTS2)
Emery-­Dreifuss Myopathy 1 (EMD)
Fabry Disease (GLA)
Factor IX Deficiency (F9)
Familial Dysautonomia (IKBKAP)
Familial Hyperinsulinism (ABCC8)
Fanconi Anemia, Group C (FANCC)
Fanconi Anemia, Group G (FANCG)
Fragile X Syndrome (FMR1)
Galactosemia (GALT)
Gaucher Disease (GBA)
Glutaric Acidemia, Type I (GCDH)
Glycine Encephalopathy (AMT)
Glycine Encephalopathy (GLDC)
Glycogen Storage Disease,
Type Ia (G6PC)
Glycogen Storage Disease,
Type Ib (SLC37A4)
Glycogen Storage Disease,
Type II (GAA)
Glycogen Storage Disease,
Type III (AGL)
GRACILE Syndrome and Other
BCS1L-­Related Disorders (BCS1L)
Hereditary Fructose Intolerance
(ALDOB)
Homocystinuria (CBS)
Hypophosphatasia (ALPL)
Inclusion Body Myopathy 2 (GNE)
Isovaleric Acidemia (IVD)
Joubert Syndrome 2 (TMEM216)
Junctional Epidermolysis Bullosa
(LAMA3)
Junctional Epidermolysis Bullosa
(LAMB3)
Junctional Epidermolysis Bullosa
(LAMC2)
Krabbe Disease (GALC)
Lamellar Ichthyosis, Type 1 (TGM1)
Limb Girdle Muscular Dystrophy,
Type 2A (CAPN3)
Limb Girdle Muscular Dystrophy,
Type 2C (SGCG)
Limb Girdle Muscular Dystrophy,
Type 2D (SGCA)
Limb Girdle Muscular Dystrophy,
Type 2E (SGCB)
Lipoamide Dehydrogenase
Deficiency (DLD)
Long-­Chain 3-­Hydroxyacyl-­CoA
Dehydrogenase Deficiency (HADHA)
Maple Syrup Urine Disease,
Type 1a (BCKDHA)
Maple Syrup Urine Disease,
Type 1b (BCKDHB)
Meckel Syndrome Type 1/Bardet-­
Biedl Syndrome 13 (MKS1)
Medium Chain Acyl-­CoA
Dehydrogenase Deficiency
(ACADM)
Menkes Disease (ATP7A)
Metachromatic Leukodystrophy
(ARSA)
Methylmalonic Acidemia (MMAA)
Methylmalonic Acidemia (MMAB)
Methylmalonic Acidemia and
Homocystinuria, Cobalamin C
Type (MMACHC)
Mucolipidosis II/IIIA (GNPTAB)
Mucolipidosis IV (MCOLN1)
Mucopolysaccharidosis, Type I
(IDUA)
Mucopolysaccharidosis, Type II (IDS)
Mucopolysaccharidosis, Type IVb/
GM1 Gangliosidosis (GLB1)
Multiple Sulfatase Deficiency
(SUMF1)
Myotubular Myopathy 1 (MTM1)
Nemaline Myopathy 2 (NEB)
Nephrotic Syndrome/Congenital
Finnish Nephrosis (NPHS1)
Nephrotic Syndrome/Steroid-­
Resistant Nephrotic Syndrome
(NPHS2)
Neuronal Ceroid-­Lipofuscinosis
(CLN3)
Neuronal Ceroid-­Lipofuscinosis
(CLN5)
Neuronal Ceroid-­Lipofuscinosis
(CLN6)
Neuronal Ceroid-­Lipofuscinosis
(CLN8)
Neuronal Ceroid-­Lipofuscinosis
(PPT1)
Neuronal Ceroid-­Lipofuscinosis
(TTP1)
Niemann-­Pick Disease, Type A/B
(SMPD1)
Niemann-­Pick Disease, Type C
(NPC1)
Nijmegen Breakage Syndrome
(NBN)
Non-­Syndromic Hearing Loss (GJB2)
Ornithine Transcarbamylase
Deficiency (OTC)
Pendred Syndrome (SLC26A4)
Phenylalanine Hydroxylase
Deficiency (PAH)
3-­Phosphoglycerate Dehydrogenase
Deficiency (PHGDH)
Polycystic Kidney Disease,
Autosomal Recessive (PKHD1)
Primary Carnitine Deficiency
(SLC22A5)
Primary Hyperoxaluria, Type 1 (AGXT)
Propionic Acidemia (PCCA)
Propionic Acidemia (PCCB)
Pyruvate Dehydrogenase
E1-­Alpha Deficiency (PDHA1)
Retinitis Pigmentosa 59 (DHDDS)
Rhizomelic Chondrodysplasia
Punctata, Type 1 (PEX7)
Sandhoff Disease (HEXB)
Smith-­Lemli-­Opitz Syndrome (DHCR7)
Spinal Muscular Atrophy
(SMN1/SMN2 and SNP testing)
Sulfate Transporter-­Related
Osteochondrodysplasia (SLC26A2)
Tay-­Sachs Disease (HEXA)
Tyrosinemia, Type I (FAH)
Usher Syndrome, Type IB (MYO7A)
Usher Syndrome, Type IC (USH1C)
Usher Syndrome, Type ID (CDH23)
Usher Syndrome, Type IF (PCDH15)
Usher Syndrome, Type IIA (USH2A)
Usher Syndrome, Type III (CLRN1)
Very Long Chain Acyl-­CoA
Dehydrogenase Deficiency
(ACADVL)
Walker-­Warburg Syndrome and
Other FKTN-­Related Dystrophies
(FKTN)
Wilson Disease (ATP7B)
X-­Linked Juvenile Retinoschisis (RS1)
X-­Linked Severe Combined
Immunodeficiency (IL2RG)
Zellweger Syndrome Spectrum
(PEX1)
Zellweger Syndrome Spectrum
(PEX2)
X-­Linked Disorder
DISORDERS INCLUDED IN THE GeneVu Comprehensive PANEL:
GoodStartGenetics.com