Comprehensive Jewish Carrier Screen (96 Genes)


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

There are several pathogenic variants that occur at increased frequencies in the Ashkenazi Jewish (Central and Eastern European), Sephardi Jewish (Southern European and Northern African), and Mizrahi Jewish (Middle Eastern/Arab) populations. Our Comprehensive Jewish Carrier Screen covers 96 conditions that fall into this category. Some disorders are specific to one of the 3 subpopulations, however, there are certain diseases that are relevant to all Jewish subgroups. Because these disorders are inherited in an autosomal recessive or X-linked manner, patients may be at risk of passing on a genetic disorder without knowing it.

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

  • 7-14 days


Resources

Carrier Screening Requisition
Comprehensive Jewish Carrier Screen Brochure