Expanded Carrier Screen (39 genes)


Related Gene(s): ABCC8, ACADM, ASPA, ASS1, BCKDHA, BCKDHB, BLM, CFTR, CLN3, CLRN1, DHCR7, DLD, DMD, FAH, FANCC, FKTN, FMR1, G6PC, GALT, GBA, HBA1, HBA2, HBB, HEXA, IDUA, IKBKAP, IVD, MCOLN1, MMACHC, NEB, PAH, PCDH15, PEX1, PEX7, PKHD1, PMM2, SMN1, SMPD1, TMEM216

The Expanded Carrier Screen panel of 39 genes includes 23 genes highlighted in ACOG Committee Opinion 690: Carrier Screening in the Age of Genomic Medicine. It also includes 16 additional higher-frequency genes associated with conditions such as Duchenne muscular dystrophy, autosomal recessive polycystic kidney disease, and congenital disorder of glycosylation, type 1A.

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.


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