FH Genetic Testing Pathway

• Simon Broome guidance (opens in a new tab)

The FH test will look for genetic variants in only the genes known to cause FH.

The East GLH Laboratory will extract DNA from the patients sample and analyse the DNA sequence of five genes known to contain genetic variants that cause FH.

The FH test may not identify a genetic cause of FH. This does not exclude a diagnosis of FH.

A genetic diagnosis is identified in approximately 80% of patients with a high likelihood of FH. There may be other genetic causes of FH that we do not know about and some individuals have high lipid levels due to multiple genetic factors that each have a small effect. This is sometimes known as polygenic FH. Testing for polygenic high lipid levels/FH is not currently a test commissioned by NHS England.

The FH test results may be uncertain and change over time.

Some genetic variants in patients are very rare and without additional evidence the Clinical Scientist may report these as “variants of uncertain significance”. Through the identification of additional patients with the same genetic variant or cell function studies the strength of evidence for causality may increase and be reinterpreted as Likely Pathogenic.

The FH test results may have implications for other family members.

FH is usually an autosomal dominant genetic disorder. This means that, first degree relatives of a patient with FH will have a 50% chance of also being affected.

Research studies may lead to improvements in the diagnosis and treatment of Familial Hypercholesterolaemia, high lipid levels and cardiovascular disease.

This patient is under no obligation to take part in any research studies.

If a patient is contacted with information about a study, they are under no obligation to take part.

This decision will not affect the care this patient will receive.