EMQN are introducing a pilot scheme for external quality assessment (EQA) of molecular testing for Severe Combined Immunodeficiency (SCID) in 2020. The scheme has been organised in collaboration with the ERN-RITA molecular testing working group.
- The 2020 SCID pilot scheme will be limited to 30 participating laboratories
- The SCID scheme is designed for laboratories testing gene panels.
- 3 DNA samples will be distributed with mock clinical scenarios. Samples will include variants in different genes relevant to SCID, for example RAG1/2, ADA, and DCLRE1C. The genes included in the scheme will vary each year.
- This scheme is suitable for sequence analysis methods (eg. NGS and Sanger)
- For each case, participants will be asked to return a clinical report which includes clinical interpretation of the results.
- Genotyping, interpretation, and patient identifiers and clerical accuracy will be assessed.
REGISTRATION OPENS SEPTEMBER 2019
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