Validating a Regional Model of Familial Hypercholesterolaemia Diagnostic and Cascade Testing

Hypercholesterolaemia is a genetic disorder characterised by high levels of low density lipoprotein cholesterol, causing premature cardiovascular disease.  This project will see the development of an adaptive regional genetic diagnostic testing service for Familiar Hypercholesterolaemia through the validation and optimisation of a “chip and sequence” approach to DNA diagnosis.  As an output of the project, clinical and economic analysis of the data will lead to the definition of a best practice model for a regional, long-term service delivery approach.

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 CS image  28 - Angie Silmon


(case study uploaded 8th August 2016)

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