Clinical Research

Clinical Research

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

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.

Know more. Learn how we have improved our Innatal® Prenatal Screen.

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.

Confirming sex chromosome abnormalities and predicting clinical implications can be trickier than you think. Here’s one case series that proves this point.

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.