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.
Choice for you and your patients
Inheritest offers multiple panels to suit the diverse needs of your patients:
- Core panel: Focuses on mutations for CF, SMA, 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).
- Society-Guided panel: Includes mutations for more than a dozen disorders listed in ACOG and/or ACMG guidelines.
- Ashkenazi Jewish panel: Includes mutations for more than 39 disorders relevant to patients of Ashkenazi Jewish descent.
- Comprehensive panel: Includes more than 110 disorders across 141 different genes—includes all disorders in Core, Society-Guided, and Ashkenazi Jewish panels.
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