Gx™ Carrier Screening

For family planning and newborn well-being

Gx™ Carrier Screening for family planning and newborn well-being

All infants undergo newborn screening to identify serious inherited disorders biochemically. These conditions may not be recognized due to the sensitivity and limitations of current biochemical testing, and may cause irreversible symptoms. Gx™ Carrier Screening provides a complementary and sometimes more sensitive method to identify recessive mutation carriers and harmful mutations in newborns. 

Gx™ Carrier Screening tests 167 genes linked to  heritable disorders including 32 core and 26 secondary conditions identified by American College of Medical Genetics (ACMG) and American Congress of Obstetricians and Gynecologists (ACOG), and recommended by US Department of Health and Human Services Secretary's Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC) for screening. These genes are clinically linked to 71 newborn metabolic conditions. Nearly all of these conditions have successful treatment options to enable the child to develop normally if detected early.

  • Assessment of risk for pregnant or planning couples
  • Complementary newborn screen
  • Insights for proactive treatments

Flexible options to test a subset of Gx™-Carrier genes

Gx™ CFTR: CFTR

Gx™ CarrierBasicCFTR, DMDHBA1HBA2 , HBB, SMN1

Gx™ CarrierACOG/ACMG: ASPA, BLM, CFTR, DMD, FANCCGBA, HBA1HBA2, HBB, HEXA, IKBKAP, MCOLN1,SMPD1,SMN1

Gx™ CarrierAshkanaziJewish: PHGDH, MTTP, COL4A3, SLC35A3, BBS2, BLM, ASPA, CPT2, MPL, PMM2, CFTR, DLD, DMD, RTEL1, ADAMTS2, IKBKAP, ABCC8, FANCC, FKTN,GALT, GBA, G6PC, TMEM216, BCKDHB, DLD, MCOLN1, SUMF1, NEB, SMPD1, PKHD1, DHDD5, DHCR7, SMN1, HEXA, FAH, PCDH15, CLRN1, ATP7B, PEX2

Candidates for Gx™ Carrier Screening

  • Couples that are pregnant or planning to become pregnant who have:
    • a previously affected child
    • a first- or second- degree relative that is affected
    • a first-degree relative with an affected offspring
  • Newborns of known carrier parents or carrier family members
  • Individuals who are members of a popular known to have a high carrier rate