Clinical Publications

Clinical Publications

Progenity conducts and publishes ongoing research, to encourage open sharing of ideas and information that can lead to better patient care.

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.

Guidelines for identifying hemoglobinopathy carriers recommend genotyping only for certain patients. But these results show that concurrent testing may be the way to go.

Sickle cell anemia (Hb S) is a classic study in carrier status and recessive inheritance, but the beta-hemoglobinopathies are far more complex than they seem. This study highlights the diversity within this group of disorders, and within the ethnicities at risk.

Not all carriers of alpha-thalassemia have the same disease transmission outcomes. Read more about how the ethnicity with the highest carrier frequency is not the ethnicity with the highest risk of having an affected child.

The association between fragile X premutations and primary ovarian insufficiency made us wonder. Now we know the answer is “Yes.”

Curious about the impact an expanded carrier testing approach would have in practice? We have answers.

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

How often are women carriers of fragile X syndrome? Results from an exceptionally large, ethnically-diverse population.