Ashkenazi Jewish Carrier Screen (64 Genes)
Related Gene(s): ABCC8, ACADM, ADAMTS2, ASPA, ATP7B, BBS2, BCKDHB, BLM, CFTR, CLRN1, COL4A3, CPT2, CYP21A2, DHCR7, DHDDS, DLD, DMD, DNAH5, DNAI1, DNAI2, F11, FAH, FAM161A, FANCC, FKTN, FMR1, G6PC, GAA, GALT, GBA, GBE1, GJB2, HBA1, HBA2, HBB, HEXA, HOGA1, HPS3, IKBKAP, LDLR, LOXHD1, MCOLN1, MEFV, MPL, MTTP, NDUFAF5, NEB, NR2E3, PAH, PCDH15, PEX2, PFKM, PHGDH, PKHD1, PMM2, RTEL1, SLC35A3, SMN1, SMPD1, SUMF1, TCIRG1, TMEM216, VPS13A, VRK1
The Ashkenazi Jewish Carrier Screen tests for variants in 64 genes associated with genetic 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 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
- 10-14 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