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.
Testing is performed using a combination of next-generation sequencing, targeted genotyping, and copy number analysis. Additionally, enzyme analysis is performed 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 table to determine the risk following a negative result.
For prenatal samples, please contact our laboratory at 800-298-6470 for more information.
- 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
- Ship at room temperature
- 14 days from receipt of specimen
Expanded Carrier Screen provider brochure
Carrier screening clinical information sheet
Carrier screening test requisition
Prenatal test requisition, including carrier screening and Noninvasive Prenatal Select