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Lipids: familial hypercholesterolaemia

The laboratory provides the following service (R code relates to the NHS England National Genomic Test Directory).

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.

Last reviewed:23 April 2024