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

Clinical Experience-Multigene Carrier Panels

Manuscript

This research was published in Prenatal Diagnosis (Apr. 2018).

Read the manuscript

Progenity MSL Team

Have questions?

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References

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

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