Ashkenazi Jewish Carrier Screening

Indications For Ashkenazi Jewish Carrier Screening

Identification of carriers for autosomal recessive diseases of increased prevalence among people of Ashkenazi Jewish descent. 

Specimen Requirements

Minimum 10cc whole blood for a single test and 30cc whole blood for multiple tests.

Specimen Container

lavender-top tube (EDTA) or yellow-top tube  (ACD-A)


Laboratory Testing For Ashkenazi Jewish Carrier Screening involves Molecular genetic analysis for specific mutations:

  • Bloom Syndrome
  • Canavan Disease Mutation Analysis
  • Cystic Fibrosis
  • Dihydrolipoamide Dehydrogenase Deficiency
  • Familial Dysautonomia
  • Fanconi Anemia (Group C)
  • Gaucher Disease
  • Glycogen Storage Disease Type 1a
  • Joubert Synrome 2
  • Maple Syrup Urine Disease
  • Mucolipidosis Type IV
  • Nemaline Myopathy
  • Niemann-Pick Disease (Type A)
  • Spinal Muscular Atrophy SMA
  • Tay-Sachs Disease
  • Usher Syndrome (type III an type IF)
  • Walker-Warburg Syndrome

Transport Temperature

Room temperature (DO NOT freeze or centrifuge) 

Causes for Rejection

Frozen specimen, clotted or hemolysed, inappropriate container 

Turnaround Time

10-14 days