Reproductive Carrier Screening: Genetic Conditions Tested on the ReproGEN Panel

The following genetic diseases are included on the 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 syndrome)
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 (MCAD)
Megalencephalic leukoencephalopathy
Metachromatic leukodystrophy
Methylmalonic acidemia, cblA type
Methylmalonic acidemia, cblB type
Methylmalonic aciduria and homocystinuria, cblC type
Mitochondrial complex 1 deficiency, NDUFAF5-related
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 syndrome)*
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, B)
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 ichthyosis
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 (VLCAD)
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.