Carrier screening, once thought to be a test primarily for specific ethnic groups, is now often recommended for every patient.
The American Congress of Obstetricians and Gynecologists (ACOG) recently updated its recommendations, stating that carrier screening for spinal muscular atrophy (SMA), in addition to cystic fibrosis (CF), "should be offered to all women who are considering pregnancy or are currently pregnant."1
Inheritest® provides carrier screening for more than 110 severe disorders that can cause cognitive or physical impairment and/or require surgical or medical intervention.
Selected to focus on severe disorders of childhood onset, and to meet ACOG and the American College of Medical Genetics and Genomics (ACMG) criteria, many of the disorders share a recommendation for early intervention.
Inheritest Comprehensive
Includes more than 110 disorders across 141 different genes—includes all disorders in Core, Society-guided, and Ashkenazi Jewish panels.
See list of disorders
Inheritest Society-Guided
Screens for 12 disorders included in the American College of Medical Genetics and Genomics and the American Congress of Obstetricians and Gynecologists guidelines.
See list of disorders
Inheritest Ashkenazi Jewish
Screens for 39 disorders specific to individuals of Ashkenazi Jewish descent.
See list of disorders
Inheritest Core
Focuses on mutations for cystic fibrosis, spinal muscular atrophy, and fragile X syndrome, with the following carrier risks: CF: as high as 1 in 242 (varies by ethnicity); SMA: as high as 1 in 473 (varies by ethnicity); and fragile X syndrome: approximately 1 in 259 females4 (all ethnicities).
Other carrier screening options
In addition to Inheritest, Integrated Genetics offers a variety of single-gene tests for patients who may only want to screen for a specific disorder, such as cystic fibrosis, spinal muscular atrophy, or fragile X syndrome.
Reference
- Carrier Screening for Genetic Conditions. ACOG Committee Opinion No. 691, March 2017