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Technical Information

All genetic tests through GeneHealth UK are performed using Next Generation Sequencing with a minimum coverage of 20x and include copy number variant analysis.  At GeneHealth UK we ensure that all genes listed are covered 100% at 20x and that there are no clinically relevant gaps.

Next Generation Sequencing may also identify inconclusive results known as variants of uncertain significance (VUS), which are not clinically actionable. The classification of variants of uncertain significance is based on the best currently available scientific evidence. Future scientific research findings may provide evidence to re-classify such variants as either clinically significant or benign.

The identification of a VUS is confusing for both clinicians and clients, as they are usually not clinically actionable but can raise anxiety. VUS rates can vary considerably between panels and laboratories. At GeneHealth UK our VUS rate for the panels is low at 3%, and even lower for BRCA1 & BRCA2 only. GeneHealth UK is able to provide a low VUS rate because our panels are cancer specific and also because our lab has a wealth of experience.

DNA extraction and processing is performed in a laboratory that is accredited to ISO 9001 and ISO 1400 and is currently an NHS provider.

Genetic test results are interpreted and reported by some of the best Clinical Scientists in the UK. Our Clinical Scientists are HCPC registered (Health & Care Professions Council) with significant experience in NHS clinical molecular genetics service delivery.

DNA is destroyed 1 month after testing is completed and not used for any other purpose unless consent is given.

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Genetic Counselling Services
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