Ashkenazi Jewish Carrier Screen (58 Genes)


Related Gene(s): Please download the brochure for a full list of genes screened for.

The Ashkenazi Jewish Carrier Screen tests for variants associated with 58 autosomal recessive diseases found at an increased frequency in the Ashkenazi Jewish population. Because of the serious and life-threatening nature of several of these conditions and the lack of available treatment, prevention is the best strategy for combating these diseases. Carrier screening and appropriate genetic counseling can be used to dramatically reduce the incidence of these disorders in the Ashkenazi Jewish population.

Testing is performed by mutation genotyping for each of these disorders and by enzyme analysis for Tay-Sachs disease. Although this testing can detect the majority of disease-causing pathogenic variants, a negative result does not eliminate the possibility that an individual is a carrier of a rare pathogenic variant that was not identified. Please refer to the residual risk tables found in the Comprehensive Jewish Carrier Screen brochure to determine the risk following a negative result.

For prenatal samples, please contact our laboratory at 212-241-7518 for more information.


Specimen Requirements

  • Blood: One 5-10 mL tube with ACD (yellow top) and two 5-10 mL tubes with EDTA (lavender top)
  • We accept saliva specimens to perform follow-up molecular testing for partners of identified carriers. Please contact our laboratory to obtain saliva kits

Ordering Information

Shipping

  • Ship at room temperature

Turnaround Time

  • 10-14 days


Resources

Carrier Screening Requisition
Comprehensive Jewish Carrier Screen Brochure