As genetic science advances most national genetics and reproductive societies are recommending expanded carrier screening for all individuals of childbearing age planning to start or expand their family.

JGDC provides information about genetic diseases that are on the JScreen ReproGEN panel.  At other labs the number of diseases for which individuals can be tested may vary, therefore it is important to discuss your options with a genetic counselor before being tested.

The following genetic diseases are included on the JScreen test panel. Conditions in bold are common in those with Jewish ancestry.

11-beta-hydroxylase-deficient CAH

21-hydroxylase-deficient CAH

6-pyruvoyl-tetrahydropterin synthase deficiency

ABCC8-related hyperinsulinism



Adenosine deaminase deficiency

Adrenoleukodystrophy, X-linked*

Alpha thalassemia


Alpha-sarcoglycanopathy (LGMD 2D)

Alport syndrome, X-linked*

Alstrom syndrome

AMT-related glycine encephalopathy

Andermann syndrome


Argininosuccinic aciduria


Asparagine synthetase deficiency


Ataxia with vitamin E deficiency


ATP7A-related disorders*

Autosomal recessive osteopetrosis type 1

Bardet-Biedl syndrome, BBS10-related

Bardet-Biedl syndrome, BBS12-related

Bardet-Biedl syndrome, BBS1-related

Bardet-Biedl syndrome, BBS2-related

BCSL1-related disorders

Becker muscular dystrophy*

Beta-sarcoglycanopathy (LGMD 2E)

Beta-thalassemia (and other hemoglobinopathies)

Biotinidase deficiency

Bloom syndrome


Canavan disease

Carbamoylphosphate synthetase I deficiency

Carnitine palmitoyltransferase IA (CPT1A) deficiency

Carnitine palmitoyltransferase II (CPTII) deficiency

Cartilage-hair hypoplasia

Cerebrotendinous xanthomatosis



Citrullinemia type 1

CLN3-related neuronal ceroid lipofuscinosis

CLN5-related neuronal ceroid lipofuscinosis

CLN6-neuronal ceroid lipofuscinosis type 6

Cohen syndrome

COL4A3-related Alport syndrome

COL4A4-related Alport syndrome

Congenital amegakaryocytic thrombocytopenia

Congenital disorder of glycosylation (CDG) type Ia

Congenital disorder of glycosylation (CDG) type Ib

Congenital disorder of glycosylation (CDG) type Ic

Congenital Finnish nephrosis

Congenital insensitivity to pain with anhidrosis

Corticosterone methyloxidase deficiency

Costeff optic atrophy syndrome

CYBA-related chronic granulomatous disease

Cystic fibrosis


D-bifunctional protein deficiency


Dihydropyrimidine dehydrogenase deficiency (HTU)

DNAH5-related primary ciliary dyskinesia

DNAI1-related primary ciliary dyskinesia

DNAI2-related primary ciliary dyskinesia

Duchenne muscular dystrophy*

Dysferlinopathy (limb girdle muscular dystrophy 2B)

Ehlers-Danlos syndrome type VIIC

ERCC6-related disorders

ERCC8-related disorders

EVC-related Ellis-van Creveld syndrome

EVC2-related Ellis-van Creveld syndrome

Fabry disease*

Factor XI deficiency

Familial dysautonomia

Familial Mediterranean fever

Familial tumoral calcinosis

Fanconi anemia complementation group A

Fanconi anemia type C

FKRP-related disorders

FKTN-related disorders (includes Walker Warburg


Fragile X syndrome**

G6PD deficiency*

Galactokinase deficiency



Gaucher disease

GJB2-related nonsyndromic hearing loss

GJB6 (certain variants)

GLDC-related glycine encephalopathy

Glutaric acidemia type 1

Glycogen storage disease (GSD) type Ia

Glycogen storage disease (GSD) type Ib

Glycogen storage disease (GSD) type III

Glycogen storage disease (GSD) type IV (GBE1-

related disorders, adult polyglucosan body disease)

Glycogen storage disease (GSD) type V

Glycogen storage disease (GSD) type VII

GM1-gangliosidosis (includes GLB1-related disorders,

Morquio syndrome)

GNPTAB-related disorders

HADHA-related disorders (includes LCHAD)

Hereditary fructose intolerance

Herlitz junctional epidermolysis bullosa, LAMA3-related

Herlitz junctional epidermolysis bullosa, LAMB3-related

Herlitz junctional epidermolysis bullosa, LAMC2-related

Hermansky-Pudlak syndrome type 3

HMG-CoA lyase deficiency

Holocarboxylase synthetase deficiency

Homocystinuria/cystathionine beta-synthase deficiency

Homocystinuria/MTHFR deficiency

Hydrolethalus syndrome

Hypophosphatasia, autosomal recessive

Inclusion body myopathy 2 (HIBM), GNE Myopathy

Isovaleric acidemia

Joubert syndrome 2

KCNJ11-related familial hyperinsulinism

Krabbe disease

LAMA2-related muscular dystrophy

Leigh syndrome, French-Canadian type

Lipoamide dehydrogenase deficiency

Lipoid congenital adrenal hyperplasia

LOXHD1-related hearing loss

Lysosomal acid lipase deficiency

Maple syrup urine disease (MSUD) type Ia

Maple syrup urine disease (MSUD) type Ib

Maple syrup urine disease (MSUD) type II

Medium chain acyl-CoA dehydrogenase deficiency


Megalencephalic leukoencephalopathy

Metachromatic leukodystrophy

Methylmalonic acidemia, cblA type

Methylmalonic acidemia, cblB type

Methylmalonic aciduria and homocystinuria, cblC type

Mitochondrial complex 1 deficiency, NDUFAF5-


Mitochondrial complex 1 deficiency, NDUFS4-related

Mitochondrial complex 1 deficiency, NDUFS6-related

Mitochondrial neurogastrointestinal encephalopathy

MKS1-related disorders

Mucolipidosis III gamma

Mucolipidosis IV

Mucopolysaccharidosis (MPS) type I (Hurler/Scheie)

Mucopolysaccharidosis (MPS) type II (Hunter


Mucopolysaccharidosis (MPS) type IIIA (Sanfilippo A)

Mucopolysaccharidosis (MPS) type IIIB (Sanfilippo B)

Mucopolysaccharidosis (MPS) type IIIC (Sanfilippo C)

Multiple sulfatase deficiency

Muscle-eye-brain disease

MUT-related methylmalonic acidemia

MYO7A-related disorders

Myopathy, lactic acidosis, sideroblastic anemia 1

NEB-related nemaline myopathy

Niemann-Pick disease type C

Niemann-Pick disease type C2

Niemann-Pick disease, SMPD1-associated (types A,


Nijmegen breakage syndrome

Northern epilepsy

NR2E3-related disorders

Ornithine aminotransferase deficiency

Ornithine transcarbamylase deficiency*

PCCA-related propionic acidemia

PCCB-related propionic acidemia

PCDH15-related disorders (includes Usher type 1F)

Pendred syndrome

Peroxisome biogenesis disorder type 3

Peroxisome biogenesis disorder type 4

Peroxisome biogenesis disorder type 5

Peroxisome biogenesis disorder type 6

PEX1-related Zellweger syndrome spectrum

Phenylalanine hydroxylase deficiency (PKU)

Phosphoglycerate dehydrogenase deficiency

PHYH-related refsum disease

PKHD1-related ARPKD

Polyglandular autoimmune syndrome type 1

Pompe disease

Pontocerebellar hypoplasia type 1A

Pontocerebellar hypoplasia type 2D

Pontocerebellar hypoplasia type 2E

Pontocerebellar hypoplasia type 6

Postnatal progressive microcephaly with seizures

PPT1-related neuronal ceroid lipofuscinosis

Primary carnitine deficiency

Primary hyperoxaluria type 1

Primary hyperoxaluria type 2

Primary hyperoxaluria type 3

PROP1-related combined pituitary hormone deficiency

Pseudocholinesterase deficiency


Pyruvate carboxylase deficiency

RAG2-related disorders

RAPSN-related disorders

Renal tubular acidosis with deafness

Retinitis pigmentosa type 25

Retinitis pigmentosa type 26

Retinitis pigmentosa type 28

Retinitis pigmentosa type 59

Rhizomelic chondrodysplasia punctata type 1

RPE65-related disorders

RTEL1-related disorders

Salla disease

Sandhoff disease

Segawa syndrome

Short chain acyl-CoA dehydrogenase deficiency (SCAD)

Sickle cell disease (and other hemoglobinopathies)

Sjogren-Larsson syndrome

Smith-Lemli-Opitz syndrome

Spastic paraplegia 15

Spastic paraplegia 49 (TECPR2)

Spinal muscular atrophy

Spondylothoracic dysostosis

Steroid-resistant nephrotic syndrome

Sulfate transporter-related osteochondrodysplasia

Tay Sachs disease (hexosaminodase A deficiency)

TGM1-related autosomal recessive congenital


TPP1-related neuronal ceroid lipofuscinosis

Transient infantile liver failure

Tyrosinemia type I

Tyrosinemia type II

USH1C-related disorders (includes Usher type 1C)

USH2A-related disorders (includes Usher type 2A)

Usher syndrome type 3

Very long chain acyl-CoA dehydrogenase deficiency


VSX2-related microphthalmia

Wilson disease

Xeroderma pigmentosum group A

Xeroderma pigmentosum group C

X-linked congenital adrenal hypoplasia*

X-linked juvenile retinoschisis*

X-linked myotubular myopathy*

X-linked severe combined immunodeficiency (SCID)*

* X-linked conditions

** X-linked conditions – female testing only

*** The disease panel increased from 104 conditions to 226 condition in April 2017.