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

Carrier Screening Requisition
Carrier Screening Clinical Information Sheet