Science in 60 - Genetic Testing and Familial Hypercholesterolemia - (FH)

Editor’s Note: Science in 60 is a new video series from Ambry in which our researchers will give a brief overview of how genetic testing can help everyone understand disease. In this inaugural segment, Ambry genetic counselor Tami Johnston, MS CGC, looks at how genetic testing can improve the diagnoses and treatment plans for patients with Familial Hypercholesterolemia (FH).

Ambry’s research shows that genetic testing with multi-gene panel tests for Familial Hypercholesterolemia (FH) can confirm or specify diagnoses for 42% of the population with elevated cholesterol levels, including borderline patients. The research by Tami, Manager, Genetic Counseling- Cardiology, Clinical Diagnostics, shows that genetic testing:

  • Works on wide range of individuals
  • Can indicate treatment with PCSK9 inhibitors
  • Guide pharmacological treatment

If you are interested in learning more about Ambry’s FH testing, visit here; if you are a patient looking for more information about the disease, you can find that here.

For more of Ambry's studies, papers, posters and more, visit our research page



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