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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

Familial hypercholesterolemia 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 the condition or other genetic conditions that can cause high cholesterol levels.

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

Ordering the genomic test

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

The test will identify and report genetic variants associated with monogenic disease. The polygenic SNP score is not included in the Genomic Medicine Service commissioned test. Contact the Cambridge University Hospitals Genomic Laboratory for more information by emailing 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.

Referral forms

Once, you know they are eligible, you can download and complete our familial hypercholesterolemia test order form and the record of discussion form.

These are on our referral form page.

Useful resources

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