JScreen
JScreenThe 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 |
| Abetalipoproteinemia |
| Achromatopsia |
| Adenosine deaminase deficiency |
| Adrenoleukodystrophy, X-linked* |
| Alpha thalassemia |
| Alpha-mannosidosis |
| Alpha-sarcoglycanopathy (LGMD 2D) |
| Alport syndrome, X-linked* |
| Alstrom syndrome |
| AMT-related glycine encephalopathy |
| Andermann syndrome |
| Argininemia |
| Argininosuccinic aciduria |
| ARSACS |
| Asparagine synthetase deficiency |
| Aspartylglycosaminuria |
| Ataxia with vitamin E deficiency |
| Ataxia-telangiectasia |
| 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 |
| Calpainopathy |
| Canavan disease |
| Carbamoylphosphate synthetase I deficiency |
| Carnitine palmitoyltransferase IA (CPT1A) deficiency |
| Carnitine palmitoyltransferase II (CPTII) deficiency |
| Cartilage-hair hypoplasia |
| Cerebrotendinous xanthomatosis |
| Choreoacanthocytosis |
| Choroideremia* |
| 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 |
| Cystinosis |
| D-bifunctional protein deficiency |
| Delta-sarcoglycanopathy |
| 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 |
| Galactosemia |
| Gamma-sarcoglycanopathy |
| 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 |
| Pycnodysostosis |
| 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. |
