2020 Pathogenicity of germline sequence variants (Classification & Interpretation)

Scheme description
Classification and interpretation of pathogenicity of germline sequence variants. Submit a clinical report.
Disorders/Gene target(s)
Any gene/disorder.
Clinical cases
Three
Testing/analysis
Determine the pathogenicity of several sequence variants identified from a single WGS/large panel sequencing analysis.
Sample type
N/A
Techniques
No testing required.
Assessment
Submit a clinical report to include:
• Classification of sequence variant(s)
• Interpretation of the result
• Clerical accuracy
Performance criteria are 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
The EQA is suitable for laboratories who provide both the classification and clinical interpretation of sequence variants in a diagnostic report.
Please complete the cases even if your laboratory does not routinely test for the disorder listed.
Fee
£180.00
GenQA code
2020PSVCI
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