Ashkenazi Jewish Genetic Diseases: 19 Disease Panel
- Bloom Syndrome
- Canavan Disease
- Cystic Fibrosis
- Familial Dysautonomia
- Familial Hyperinsulinism
- Fanconi Anemia C
- Gaucher Disease
- Glycogen Storage Disease 1A
- Joubert Syndrome 2
- Lipoamide Dehydrogenase Deficiency (E3)
- Maple Syrup Urine Disease 1B
- Mucolipidosis IV (ML4)
- Nemaline Myopathy
- Niemann-Pick Disease
- Spinal Muscular Atrophy
- Tay-Sachs Disease
- Usher IF
- Usher III
- Walker Warburg
Ashkenazi Jewish Genetic Diseases: 38 Disease Panel
- 3-Phosphoglycerate Dehydrogenase Deficiency
- Abetalipoproteinemia
- Alport Syndrome, Autosomal Recessive
- Arthrogryposis, Mental Retardation and Seizures
- Bardet-Biedl Syndrome
- Carnitine Palmitoyltransferase ll Deficiency
- Congenital Amegakaryocytic Thrombocytopenia
- Congenital Disorder of Glycosylation la
- Dyskeratosis Congenita, Autosomal Recessive
- Ehlers-Danlos VllC
- Fragile X Syndrome
- Galactosemia
- Multiple Sulphatase Deficiency
- Polycystic Kidney Disease, Autosomal Recessive
- Retinitis Pigmentosa 59
- Smith-Lemli-Opitz Syndrome
- Tyrosinemia l
- Wilson Disease
- Zellweger Syndrome
Sephardic/Mizrahi Jewish Genetic Diseases
- Alpha-Thalassemia
- Ataxia Telangiectasia
- Beta-Thalassemia (B-T)
- Corticosterone Methyloxidase Type II Deficiency
- Costeff Optic Atrophy (also known as Type III 3-methylglutaconic Aciduria)
- Cystic Fibrosis
- Familial Mediterranean Fever
- Familial Tumoral Calcinosis
- Glucose-6-Phosphate Dehydogenase Deficiency (G6PD)
- Hereditary Inclusion Body Myopathy (HIBM)/GNE Myopathy
- Limb Girdle Muscular Dystrophy Type 2B
- Metachromatic Leukodystrophy
- Polyglandular Syndrome
- Pseudocholinesterase Deficiency
- Spinal Muscular Atrophy
- Wolman Disease
Polycystic Kidney Disease, Autosomal Recessive
Cyst development in the kidneys causing kidney enlargement and can lead to kidney failure. Symptoms include cysts in the liver, hypertension, hematuria, recurrent urinary tract infections, kidney stones, and an increased risk for aneurysms. This condition is often lethal early in life.
Carrier Frequency: 1 in 107 Ashkenazi Jews
