The clinical impact of carrier testing for lysosomal storage diseases

The effects of lysosomal storage diseases (LSDs) can be devastating. However, some LSDs have available treatments that can prevent or delay symptoms and prolong survival when administered early in life. Learn more about carrier frequency for these diseases and the impact of carrier testing.

Our goal was to assess the positivity rate of carrier testing for LSDs in the general population and within various ethnic groups.

We performed a retrospective analysis of >230,000 patients referred for carrier testing, which included assessment for between one to 25 LSDs using Progenity’s Preparent® Carrier Test.

What did we find?

  • In this analysis, we found at least 2.77%, or approximately 1 in 36 individuals, to be carriers of an LSD.1
  • 60.5% of LSD carriers were positive for an LSD with an existing treatment.1
  • Identifying pregnancies affected by LSDs with treatment options can enable therapy to begin earlier, and may lead to better patient outcomes.


This research was shared with the 2020 American College of Medical Genetics (ACMG) Annual Clinical Genetics Meeting, Digital Edition.

Download the poster

Have questions?

Dive deeper into how this research uniquely impacts your practice by contacting us for direct access to our researchers.

Email us

  1. Keilman et al. Assessing the positivity rate of carriers of lysosomal storage disorders with treatment benefits. Poster presented at the 2020 ACMG Annual Clinical Genetics Meeting, Digital Edition.