2020 Pathogenicity of somatic sequence variant (Classification only)

Scheme description
Classification of the pathogenicity of somatic sequence variants. Submit results via a proforma.
Disorders/Gene target(s)
Any disorder/gene.
Clinical cases
Three
Testing/analysis
Determine the pathogenicity of several somatic sequence variants.
Submit your classification and supporting evidence in a proforma.
Sample type
N/A
Techniques
No testing required.
Assessment
Interpretation of the result and clerical accuracy. Performance criteria will be applied.
Eligibility
All laboratories worldwide
Languages
English
ISO17043 Accredited EQA
No
EQA timeline
Sample dispatchTo be confirmed.
Testing period
Assessment results
Final Summary report
Other information
Please complete the cases even if your laboratory does not routinely test for the disorder listed.
Fee
£180.00
GenQA code
2020PSSVC
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