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The way many think about carrier screening is changing...

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.

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.

Inheritest Carrier Screen Lab report including a final CGG AGG fragile X result 14 days

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

Inheritest®, 500 PLUS Panel

Includes 525 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.
See list of disorders

 

Inheritest®, Comprehensive Panel

Includes more than 110 disorders across 144 different genes—includes all disorders in CoreSociety-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 fibrosisspinal 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). 

Carrier screening

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 fibrosisspinal muscular atrophy, or fragile X syndrome.

Do you have patients who have not had a test and have questions about costs or coverage? Send them to our estimator.

Do you have patients who have already had a test performed and are wondering when their results will be in? We can help.

Patients with questions about their test results who need schedule an appointment with a counselor can do so online.

Reference

  1. Carrier Screening for Genetic Conditions. ACOG Committee Opinion No. 691, March 2017
  2. 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
  3. 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
  4. 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