Expanded Carrier Screen (152 genes)


Related Gene(s): ABCC8, ABCD1, ACADM, ACADVL, ACSF3, ADA, ADAMTS2, AGA, AGL, AIRE, ALDOB, ALPL, ARSA, ASL, ASNS, ASPA, ATM, ATP6V1B1, ATP7B, BBS1, BBS2, BCKDHA, BCKDHB, BCS1L, BLM, BTD, CBS, CDH23, CEP290, CERKL, CFTR, CLN5, CLRN1, CNGB3, COL4A3, COL7A1, CPT2, CTNS, CYBA, CYP11B2, CYP27A1, DHCR7, DHDDS, DLD, DMD, DNAH5, DNAI1, DNAI2, DYSF, ETFDH, EVC, EYS, F11, FAH, FAM161A, FANCA, FANCC, FANCG, FH, FKTN, FMR1, G6PC, GAA, GALC, GALK1, GALT, GBA, GBE1, GCDH, GJB2, GLB1, GLE1, GNE, GNPTAB, HBA1, HBA2, HBB, HEXA, HEXB, HLCS, HOGA1, HPS1, HPS3, HYLS1, IKBKAP, KCNJ11, LDLR, LIPA, LOXHD1, LRPPRC, MCOLN1, MED17, MEFV, MKS1, MLC1, MPL, MTHFR, MTTP, MYO7A, NDUFAF5, NDUFS6, NEB, NPHS1, NR2E3, NTRK1, OAT, OPA3, PAH, PCDH15, PEX2, PEX6, PFKM, PHGDH, PKHD1, PMM2, POMGNT1, PPT1, PROP1, PUS1, PYGM, RAG2, RAPSN, RARS2, RMRP, RPE65, RTEL1, SACS, SEPSECS, SLC12A3, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC26A2, SLC26A4, SLC35A3, SMN1, SMPD1, SUMF1, TCIRG1, TECPR2, TGM1, TMEM216, TPP1, TRMU, TSFM, TYMP, USH1C, USH2A, VPS13A, VRK1, VSX2

The Expanded Carrier Screen panel of 152 genes includes 84 genes recommended for expanded carrier screening panels by Stevens, et al.* based on a 2013 position statement from American College of Medical Genetics and Genomics (ACMG) and ACOG Committee Opinion 690. It also includes an additional 53 genes from our comprehensive Jewish carrier screening panel and 15 other genes with a carrier frequency of >1 in 100 in an ethnic subgroup.

Our carrier screening technologies are >95% accurate. A negative test result for any given disease does not exclude an individual from being a carrier for that disease, but only reduces the risk of being a carrier. The patient may still have a pathogenic variant that was not identified by this testing. 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.

*Stevens B, et al. Finding middle ground in constructing a clinically useful expanded carrier screening panel. Obstet Gynecol. 2017;130(2):279-284.


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

Expanded Carrier Screen patient brochure
Expanded Carrier Screen provider brochure
Carrier screening clinical information sheet
Prenatal test requisition, including carrier screening and Noninvasive Prenatal Select