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

Discover The Ambry Difference & Educate Yourself About Hereditary Cancer & Testing

Ambry is committed to delivering the most accurate genetic test results possible. Learn more about our products today.

Love this article?

Get stories just like it, delivered right to your inbox.



The information, including but not limited to, text, graphics, images and other material contained on this blog are for informational purposes only. The purpose of this blog is to promote broad understanding and knowledge of various health topics. It is not intended to be a substitute for professional medical advice, diagnosis or treatment. Always seek the advice of your physician or other qualified health care provider with any questions you may have regarding a medical condition or treatment and before undertaking a new health care regimen, and never disregard professional medical advice or delay in seeking it because of something you have read on this blog. Ambry Genetics Corporation does not recommend or endorse any specific tests, physicians, products, procedures, opinions or other information that may be mentioned on this blog. Reliance on any information appearing on this blog is solely at your own risk.