Lipids: familial hypercholesterolaemia

NHSE funded test referrals should be in accordance with the National Genomic Test Directory for rare disease and meet eligibility criteria: National Genomic Test Directory - NHS England.

Please complete a familial hypercholesterolaemia proforma to accompany samples (see referral forms).

R134 Familial hypercholesterolaemia
Genetic testing for familial hypercholesterolaemia (R134)

Testing for previously identified familial variants, as clinically appropriate, is available.