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East Genomics

Familial hypercholesterolemia

Early detection and management of patients with familial hypercholesterolemia (FH) reduces their risk of premature cardiovascular disease.

Genomic testing for FH

Familial hypercholesterolemia (FH) is a genetic condition that results in abnormally high total and LDL cholesterol levels in the blood and increases an individual's risk of developing cardiovascular disease.

Genomic testing can identify genetic variants in genes that cause FH or other genetic conditions that can cause high cholesterol levels.

FH shows an autosomal dominant pattern of inheritance. This means that children have a 1 in 2 chance of inheriting FH if one of their parents is affected. Once an FH gene variant has been identified in a patient, cascade testing can be used to identify family members with the same condition.

Ordering an FH Genomic Test

Firstly you should check that your patient is eligible for FH genomic testing using the rare and inherited disease test directory eligibility criteria.

Once, you know they are eligible, you can download and complete our FH test order form below.

The East GLH FH test will identify and report genetic variants associated with monogenic disease. The FH polygenic SNP score is not included in the Genomic Medicine Service commissioned FH test. Contact the Cambridge University Hospitals Genomic Laboratory for more information by emailing geneticslaboratories@nhs.net and include ‘FH’ in the subject heading.

Patient choice and consent

An appropriate discussion of genomic testing and the possible implications for a patient and their family members must take place prior to testing.  A record of this discussion must be retained within the patient record when a genomic test is ordered.

Find more information, including details of the East GLH Patient Choice Consent Framework online training program on our Patient Choice webpage.

Download our recommended record of discussion form below.

Useful resources

There are useful resources for patients and family members on the British Heart Foundation and Heart UK websites.