Genetic Conditions Tested in JScreen Panel

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


21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
ABCC8-Related Hyperinsulinism
Alpha Thalassemia
Andermann Syndrome
Ataxia With Vitamin E Deficiency
Autosomal Recessive Polycystic Kidney Disease
Bardet-Biedl Syndrome, BBS1-Related
Bardet-Biedl Syndrome, BBS10-Related
Beta Thalassemia
Biotinidase Deficiency
Bloom Syndrome
Canavan Disease
Carnitine Palmitoyltransferase IA Deficiency
Carnitine Palmitoyltransferase II Deficiency
Cartilage-Hair Hypoplasia
Citrullinemia Type 1
CLN3-Related Neuronal Ceroid Lipofuscinosis
CLN5-Related Neuronal Ceroid Lipofuscinosis
Cohen Syndrome
Congenital Disorder of Glycosylation Type Ia
Congenital Disorder of Glycosylation Type Ib
Congenital Finnish Nephrosis
Costeff Optic Atrophy Syndrome
Cystic Fibrosis
D-Bifunctional Protein Deficiency
Factor XI Deficiency
Familial Dysautonomia
Familial Mediterranean Fever
Fanconi Anemia Type C
Fragile X Syndrome
Gaucher Disease
GJB2-Related DFNB 1 Nonsyndromic Hearing Loss and Deafness
Glucose-6-Phosphate Dehydrogenase Deficiency
Glutaric Acidemia Type 1
Glycogen Storage Disease Type Ia
Glycogen Storage Disease Type Ib
Glycogen Storage Disease Type III
Glycogen Storage Disease Type V
GRACILE Syndrome
Hereditary Fructose Intolerance
Hereditary Thymine-Uraciluria
Herlitz Junctional Epidermolysis Bullosa, LAMA3-Related
Herlitz Junctional Epidermolysis Bullosa, LAMB3-Related
Herlitz Junctional Epidermolysis Bullosa, LAMC2-Related
Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency
Hurler Syndrome
Hypophosphatasia, Autosomal Recessive
Inclusion Body Myopathy 2
Isovaleric Acidemia
Joubert Syndrome 2
Krabbe Disease
Limb-Girdle Muscular Dystrophy Type 2D
Limb-Girdle Muscular Dystrophy Type 2E
Lipoamide Dehydrogenase Deficiency
Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
Maple Syrup Urine Disease Type 1B
Medium Chain Acyl-CoA Dehydrogenase Deficiency
Megalencephalic Leukoencephalopathy With Subcortical Cysts
Metachromatic Leukodystrophy
Mucolipidosis IV
Muscle-Eye-Brain Disease
NEB-Related Nemaline Myopathy
Niemann-Pick Disease Type C
Niemann-Pick Disease, SMPD1-Associated
Nijmegen Breakage Syndrome
Northern Epilepsy
Pendred Syndrome
PEX1-Related Zellweger Syndrome Spectrum
Phenylalanine Hydroxylase Deficiency (PKU)
Polyglandular Autoimmune Syndrome Type 1
Pompe Disease
PPT1-Related Neuronal Ceroid Lipofuscinosis
Primary Carnitine Deficiency
Primary Hyperoxaluria Type 1
Primary Hyperoxaluria Type 2
PROP1-Related Combined Pituitary Hormone Deficiency
Pseudocholinesterase Deficiency
Rhizomelic Chondrodysplasia Punctata Type 1
Salla Disease
Segawa Syndrome
Short Chain Acyl-CoA Dehydrogenase Deficiency
Sickle Cell Disease
Sjogren-Larsson Syndrome
Smith-Lemli-Opitz Syndrome
Spinal Muscular Atrophy
Steroid-Resistant Nephrotic Syndrome
Sulfate Transporter-Related Osteochondrodysplasia
Tay-Sachs Disease
TPP1-Related Neuronal Ceroid Lipofuscinosis
Tyrosinemia Type I
Usher Syndrome Type 1F
Usher Syndrome Type 3
Very Long Chain Acyl-CoA Dehydrogenase Deficiency
Walker Warburg syndrome
Wilson Disease
X-Linked Juvenile Retinoschisis

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