Sephardi-Mizrahi Jewish Carrier Screen (54 Genes)


Related Gene(s): ABCD1, ACADM, AGL, AIRE, ARSA, ASNS, ATM, ATP6V1B1, ATP7B, CERKL, CFTR, CTNS, CYBA, CYP11B2, CYP21A2, CYP27A1, DHCR7, DMD, DYSF, EYS, FAM161A, FANCA, FMR1, GAA, GNE, HBA1, HBA2, HBB, HEXA, LIPA, MED17, MEFV, MLC1, MTHFR, NDUFS6, NTRK1, OAT, OPA3, PAH, PEX6, PMM2, PUS1, PYGM, RAG2, RAPSN, RARS2, RPE65, SEPSECS, SMN1, TECPR2, TRMU, TYMP, USH2A, VSX2

There are several pathogenic variants that occur at increased frequencies in the Sephardi Jewish (Southern European and Northern African) and Mizrahi Jewish (Middle Eastern/Arab) populations. Our Sephardi-Mizrahi Jewish carrier screen covers 54 genes that fall into this category.

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 table to determine the risk following a negative result.

For prenatal samples, please contact our laboratory at 800-298-6470 for more information.


Specimen Requirements

  • Blood: One 5-10 mL ACD tube (yellow top) and two 5-10 mL EDTA tubes (lavender top)
  • Saliva: Saliva specimens are accepted in Oragene DNA (OG-500) kits by DNA Genotek. Please note that Tay Sachs enzyme analysis cannot be performed on saliva
  • If carrier screening was previously performed through Sema4, reanalysis and/or test enhancements may be ordered without providing an additional specimen. Please contact the laboratory to determine if an additional specimen is required

Ordering Information

Shipping

  • Ship at room temperature

Turnaround Time

  • 10-14 days from receipt of specimen


Resources

Carrier Screening Requisition
Carrier Screening Clinical Information Sheet