People are carriers more often
than you think

Expanding carrier testing means finding more at-risk patients. This research tells you just how many more you can find.

Many people do not know their exact ethnicity or may be a mix of multiple ethnicities. This makes it difficult to assign a single ethnicity to a patient. Expanding genetic carrier testing allows couple to determine their reproductive risk irrespective of ancestral background or geographic origin.

We looked at >75,000 patients to tell you what to expect when expanding your testing approach and inform how you prepare your practice for change.

What did we find?

  • About a 7% positivity rate for the Trio Panel testing for three diseases (CF, SMA, & FXS).1
  • About a 13% positivity rate for the Standard Panel testing for 29 diseases with recommendations from ACMG/ACOG.1
  • About a 36% positivity rate for the Global Panel testing for the 200+ diseases.1
This research was published in Prenatal Diagnosis (Apr. 2018). Read the manuscript
A summary of these results and what they mean for your practice. Download the infographic

References

  1. Terhaar C, et al. Clinical experience with multigene carrier panels in the reproductive setting. Prenat Diagn. 2018 Jun; [Epub ahead of print].