�Just beforehand of the expected release of clinical practice guidelines on Familial Hypercholesterolaemia (FH) by the influential National Institute for Clinical Excellence (NICE), Tepnel Life Sciences PLC (AIM: TED) today announced the launch of a DNA test for the early detection of FH, a genetic condition that predisposes individuals to high blood cholesterol levels and increased risk of cardiovascular disease. The CE marked Elucigene FH20 outfit, validated for in vitro diagnostic use, can rapidly determine the 20 genetic mutations most commonly found in a UK based population, that are responsible for the disease.
FH is a public health problem end-to-end the world with an estimated 10 million multitude affected, the majority of who testament suffer an adverse coronary thrombosis event before they ar 65 years old. A common genetic disorder, the potentially lethal condition occurs in 1 of 500 people in Europe and North America. In the United Kingdom it is estimated that up to 110,000 people ar affected with FH and 75% of these cases are undiagnosed.
The NICE consultation on a drawing of guidelines for employment by the National Health Service (NHS) in England and Wales is nowadays being finalized with anticipated publication for August, 2008. NICE is expected to recommend that all FH patients are offered a DNA test with subsequent cascade cover to be performed where the mutation is identified in a patient.
In a recent UK fender study the test identified a 52% mutation detection rate in a sample of 110 FH heterozygous patients. "The study findings validate Elucigene FH20 as a worthful component for future FH screening programs in the United Kingdom, providing a cost-efficient and simple method for confirmatory a person has hereditary this mortal condition," aforementioned Ben Matzilevich, Tepnel's Chief Executive Officer. "For effective treatment, early identification of persons with FH is essential and FH20 offers the NHS the right tool at the right time to implement the new clinical practice guidelines."
Currently late-stage clinical indications that propose a patient is affected with FH are increased serum cholesterin concentration, tendon xanthomas and premature coronary thrombosis heart disease. Treatment with statins to lower cholesterol levels is effective, just preventative treatment requires early diagnosis. Pre-symptomatic identification of FH individuals can insure the health risks of high cholesterin are minimized through seize modifications to diet and lifestyle.
Early detection requires identification of genetic mutations of the low-density lipoprotein receptor (LDLR) gene, the apoloiprotein B-100 (Apo B) gene or the proprotein converatse subtilisin/kexin type 9 (PCSK9) gene which are the suit of FH. Unlike other genetic diseases such as cystic fibrosis, where an affected affected role must inherit two copies of the mutated factor, FH has an autosomal dominant traffic pattern of inheritance and requires the affected patient to carry solely one copy of the mutated cistron.
While such DNA analysis and chromosomal mutation detection is crucial for the definitive diagnosis of FH, the testing can be irksome and expensive due to the exceedingly heterogeneous nature of the LDLR factor.
Following the confirmation of mutation status of an FH patient using the rapid and cost-effective Elucigene FH20 check, the new Tepnel test can be used to detect early previously undiagnosed family members with FH through shower screening programs.
The Elucigene FH20 examine is developed and manufactured within quality systems commissioned to ISO9001 and ISO13485 and complies with the European Community Directive 98/79/EC. The test is non for use in diagnostic procedures in the USA.
About Tepnel Life Sciences PLC
Tepnel Life Sciences (AIM:TED) is a UK-based international life sciences products and services Group with iI divisions, Molecular Diagnostics and Research Products & Services. The Company has laboratories, manufacturing and operations in the USA, UK and France with over cc employees. Tepnel provides test kits, reagents and services to deuce highly synergistic markets, these being Molecular Diagnostics and Biomedical Research. The Company's strategy has been to identify high growth niche opportunities inside these multi-billion pound markets. Tepnel focuses on these niche operations with internally developed products, patents, expertise and know-how as well as strategic acquisitions, to develop a leadership position within these defined market segments.
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