https://www.jewishgeneticdiseases.org/jewish-genetic-diseases/
JGDC provides information about diseases that are commonly found in the Jewish (Ashkenazi, Sephardi, and Mizrahi) population and would be important to be included in a carrier screening panel. Please keep in mind that the availability of testing for these diseases might differ between labs and it is important to discuss your options with a genetics professional before being tested.
Most expanded carrier screening panels will include the diseases listed below as well as many other diseases common to individuals of all ethnicities. Many medical and genetics profesionals are currently supporting expanded carrier screening for all individuals of child bearing age, in lieu of ethnic specific testing.
Diseases Common to all Jewish Groups
Glycogen Storage Disease Type II
Phenylalanine Hydroxylase Deficiency
Ashkenazi Jewish Diseases
3-Phosphoglycerate Dehydrogenase Deficiency
Arthrogryposis, Mental Retardation and Seizures
Carnitine Palmitoyltransferase ll Deficiency
Congenital Amegakaryocytic Thrombocytopenia
Congenital Disorder of Glycosylation la
Deafness-Autosomal Recessive 77
Dyskeratosis Congenita, Autosomal Recessive
Glycogen Storage Disease Type II
Glycogen Storage Disease Type IV / Adult Polyglucosan Body Disease
Glycogen Storage Disease Type VII
Lipoamide Dehydrogenase Deficiency
Mitochondrial Complex 1 Deficiency
Multiple Sulphatase Deficiency
Phenylalanine Hydroxylase Deficiency
Polycystic Kidney Disease, Autosomal Recessive
Pontocerebellar Hypoplasia Type 1A
Primary Ciliary Dyskinesia DNAH5
Primary Ciliary Dyskinesia DNAI1
Primary Ciliary Dyskinesia DNAI2
Walker Warburg Syndrome and Other FKTN-Related Dystrophies
Zellweger Syndrome Spectrum-PEX2
Sephardi-Mizrahi Jewish Diseases
3-Methylglutaconic Aciduria, Type III / Optic Atrophy 3, with Cataract
Adrenoleukodystrophy-X-Linked ABCD1
Asparagine Synthetase Deficiency
Beta-Globin-Related Hemoglobinopathies
Cerebrotendinous Xanthomatosis
Congenital Insensitivity to Pain with Anhidrosis
Congenital Myasthenic Syndrome
Corticosterone Methyloxidase Deficiency
Glycogen Storage Disease Type II
Glycogen Storage Disease Type III
Glycogen Storage Disease Type V
GNE Myopathy (Hereditary Inclusion Body Myopathy)
Hereditary Spastic Paraparesis 49
Homocystinuria due to MTHFR Deficiency
Infantile Cerebral and Cerebellar Atrophy
Leber Congenital Amaurosis 2-Retinitis Pigmentosa 20
Limb Girdle Muscular Dystrophy Type 2B
Megalencephalic Leukoencephalopathy with Subcortical Cysts
Mitochondrial Complex 1 Deficiency
Mitochondrial Myopathy and Sideroblastic Anemia
Myoneurogastrointestinal Encephalopathy
Ornithine Aminotransferase Deficiency
Phenylalanine Hydroxylase Deficiency
Polyglandular Autoimmune Syndrome, Type I
Pontocerebellar Hypoplasia Type 6
Progressive Cerebello-Cerebral Atrophy
Renal Tubular Acidosis and Deafness