Familial Hypercholesterolaemia

Familial Hypercholesterolaemia

Familial Hypercholesterolaemia (FH) is a genetic disorder characterised by high LDL-cholesterol levels causing premature cardiovascular disease. Although one of the most common inherited conditions, affecting around 1 in 500 people, it is asymptomatic and therefore under-diagnosed with 85% of those affected remaining unidentified (Marks et al, 2004).

The key to improving outcomes is early identification and initiation of treatment, effectively eliminating the excess cardiovascular risk (Betteridge et al, 1999; Neil et al, 2008; Vermissen et al, 2008).

NewGene offers a two-step testing regime with a rapid low cost genotype assay for common mutations, followed by full gene sequencing if required. In the North East and North Cumbria region the clinical phenotype as measured on the Dutch Clinic Score is used to determine the testing process.

Additional details and publications regarding this test can be accessed by following this link to the Case Studies page.

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Tel: +44 (0)191 241 8769
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NewGene Limited | Company Number: 06735445

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