Genetic Testing for Family Heart Disease

Clinical Diagnosis and Genetic Testing of high Lipoprotein(a)

Elevated Lipoprotein(a), or Lp(a), is diagnosed clinically with a lipid test. High Lp(a) is defined as measurement greater than 50 mg/dL or 125 nmol/L. Genetic Testing is not routinely available nor is it necessary for Lipoprotein(a).

Clinical Diagnosis and Genetic Testing of Familial Hypercholesterolemia (FH)

Familial hypercholesterolemia (FH) can be diagnosed both clinically and genetically.

Clinical Diagnosis of FH

FH is typically diagnosed clinically with a lipid test measuring the amount of LDL cholesterol in the blood, a physical exam, and a family history of early heart disease. Health care providers typically use well-established criteria to determine if someone has FH.

However, not all individuals with FH present the same way. Cholesterol levels may vary, and not everyone knows complete details of their family history.

Genetic Diagnosis of FH

Genetic testing is currently done on four known genes that cause FH. Since FH is passed down from generation to generation, if a genetic variant is found in one person, other family members can be tested. This process is known as cascade screening.

The decision to have genetic testing done is nuanced. It’s best to consult a certified genetic counselor or knowledgeable physician who can assess an individual’s case. The pros and cons for genetic testing will vary between people based on their specific medical history and personal preferences.

Considerations for Genetic Testing and FH

  • The decision to do genetic testing is personal
  • Only the individual can determine the pros and cons of their circumstances
  • A general physician or non-lipid specialist may not be knowledgeable in genetic testing
  • There may be privacy or discrimination concerns that should be discussed prior to testing
  • It is important that your work with a certified genetic counselor or knowledgeable physician to determine what is right for you


Read the Family Heart Foundation’s Genetic Testing Consensus Statement here.