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 500 genes 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.
One fast result for fragile X risk assessment, now enhanced with AGG analysis
Inheritest® Carrier Screen offers a fast turnaround time for a complete and final fragile X result with both CGG and AGG repeats reported.
AGG analysis in women who have a premutation with 55-90 CGG repeats provides a more accurate risk assessment compared to CGG testing alone.2-4 And with our unique, integrated approach, this combined CGG/AGG fragile X result is available without extending turnaround time, providing you and your patients with one timely and more refined risk estimate.
Inheritest® 500 PLUS Panel
Includes more than 500 genes, each associated with a clinically-relevant genetic disorder. It is one of the first carrier screening panels of this size, providing expanded gene coverage to empower your patients with even more relevant genetic information.
Learn more and see list of disorders
Inheritest® Comprehensive Panel
Includes more than 110 disorders across 144 different genes—includes all disorders in Core, Society-guided, and Ashkenazi Jewish panels.
See list of disorders
Inheritest® Ashkenazi Jewish Panel
Screens for more than 40 disorders specific to individuals of Ashkenazi Jewish descent.
See list of disorders
Inheritest® Society-Guided Panel
Screens for more than 13 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® Core Panel
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).
Inheritest® CF/SMA Panel
Focuses on mutations for cystic fibrosis and spinal muscular atrophy which, according to ACOG, “should be offered to all women who are considering pregnancy or are currently pregnant.”1
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.
If you’ve not had a test and have questions about costs or coverage, use our estimator.
If you have already had a test performed, we can help answer questions about results.
Ask questions about genetic testing options or results, or schedule an appointment.
Reference
- Carrier Screening for Genetic Conditions. ACOG Committee Opinion No. 691, March 2017
- Yrigollen CM, Durbin-Johnson B, Gane L, et al. AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome. Genet Med. 2012. 14(8):729–736
- Nolin SL, Sah S, Glicksman A, et al. Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles. Am J Med Genet Part A 2013. 161A:771-778
- Nolin SL, Glicksman A, Ersalesi N, et al. Fragile X full mutation expansions are inhibited by one or more AGG interruptions in premutation carriers. Gen Med, 2015 May;17(5):358-64