Familial Hypercholesterolemia (FH) is a genetic condition that results in abnormally high total and LDL cholesterol levels in the blood that increase an individuals risk of developing cardiovascular disease. The early detection and management of patients with FH reduces risk of premature cardiovascular disease.
Genomic Testing for Familial Hypercholesterolemia
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 a FH gene variant has been identified in a patient, cascade testing can be used to identify family members with the same condition.
Ordering a Familial Hypercholesterolemia Genomic Test
Check you patient is eligible for FH genomic testing: Rare and Inherited Disease Test Directory Eligibility Criteria.
Download our FH test order form here:
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:
firstname.lastname@example.org and include ‘FH’ in the subject heading.
Patient Choice – 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 here:
Download – East GLH Record of Discussion Form
Familial Hypercholesterolemia Resources