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Lipids: familial hypercholesterolaemia

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

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

R134 Familial hypercholesterolaemia
Genetic testing for familial hypercholesterolaemia (R134)

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

Last reviewed:02 August 2021