Ashkenazi Jewish Diseases

In the Ashkenazi Jewish population, some severe and lethal genetic conditions occur with relatively high frequency. Current testing enables the analysis of the genes associated with  the following disorders in the Ashkenazi Jewish population: alpha 1-anti-trypsin deficiency, autosomal recessive retinitis pigmentosa,  Bardet-Biedl syndrome, Bloom syndrome, breast- and ovarian cancer, Canavan disease, cystic fibrosis, factor XI deficiency, familial dysautonomia,  familial hypercholesterolemia, familial hyperinsulinemia, familial mediterranean fever, Fanconi anemia,  Gaucher disease, glycogen storage disease type 1A and IIIA,   Joubert syndrome II, Leber congenital amaurosis, lipoamide dehydrogenase deficiency, maple syrup urine disease, mucolipidosis type IV,  nemaline myopathy, Niemann-Pick A, non-syndromic sensorineural hearing loss, Tay-Sachs disease, Torsion dystonia, Usher syndrome type 1F and IIIA.


> Ordering information for targeted mutation analysis

> Ordering information for NGS panel


Indications for genetic testing:

  1. Confirmation of clinical diagnosis
  2. Carrier testing for at-risk family members
  3. Estimation of reproductive risks
  4. Genetic counseling
  5. Prenatal diagnosis for known familial mutation


For further information:

Comprehensive Arrayed Primer Extension Array for the Detection of 59 Sequence Variants in 15 Conditions Prevalent Among the (Ashkenazi) Jewish Population
Schrijver I, Külm M, Gardner PI, Pergament EP, and Fiddle MB
Journal of Molecular Diagnostics, Vol. 9, No. 2, April 2007