Narrative
A routine service for genetic diagnosis of familial hypercholesterolaemia (FH) was developed and commissioned by the Northern Ireland Department of Health, based on the identification by the Queen’s team of a series of mutations causing this condition. The team then developed novel diagnostic strategies that led to over 900 affected individuals being identified so that treatment could be delivered to them. Samples are received for diagnosis from the UK and Ireland and the work of the Centre helped to inform recent NICE guidance.The laboratory is recognised as an expert laboratory for the diagnosis of inherited lipid disorders by the International Federation for Clinical Chemistry and Laboratory Medicine.
| Impact status | Ongoing |
|---|---|
| Category of impact | Health Impact |
Related content
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Research output
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Multiplex MassARRAY spectrometry (iPLEX) produces a fast and economical test for 56 familial hypercholesterolaemia-causing mutations.
Research output: Contribution to journal › Article › peer-review
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Mutation screening and genotype:phenotype correlation in familial hypercholesterolaemia
Research output: Contribution to journal › Article › peer-review
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The LDLR variant T705I does not cause the typical phenotype of familial hypercholesterolaemia
Research output: Contribution to journal › Article › peer-review
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Genetic screening protocol for familial hypercholesterolemia which includes splicing defects gives an improved mutation detection rate
Research output: Contribution to journal › Article › peer-review
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Genotype/phenotype correlations in familial hypercholesterolaemia
Research output: Contribution to journal › Article › peer-review
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A novel single base deletion in the LDLR gene (211delG): Effect on serum lipid profiles and the influence of other genetic polymorphisms in the ACE, APOE and APOB genes
Research output: Contribution to journal › Article › peer-review