2020 Pathogenicity of germline sequence variants (Classification only)

Scheme description
Classification of the pathogenicity of germline sequence variants. Submit results via a proforma. .
Disorders/Gene target(s)
Any disorder/gene.
Clinical cases
Three
Testing/analysis
Determine the pathogenicity of several sequence variants.
Submit your classification and supporting evidence in a proforma.
Sample type
N/A
Techniques
No testing required.
Assessment
Submit a proforma to include:
• Classification of the variant
• Clerical accuracy
Performance criteria will be applied.
Eligibility
All laboratories worldwide
Languages
English
ISO17043 Accredited EQA
No
EQA timeline
Sample dispatchMay 2020
Testing period16 weeks
Assessment resultsOctober 2020
Final Summary reportDecember 2020
Other information
This EQA is suitable for laboratories who provide the pathogenicity of sequence variants to clinical staff for interpretation.
Please complete the cases even if your laboratory does not routinely test for the disorder listed.
Fee
£180.00
GenQA code
2020PSVC
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