NGS for germline SNVs and indels

One mock clinical case and matching sample will be provided. Approximately 1- 2µg DNA per sample is provided. Complete information will be available in the scheme instructions.

There is an option is to purchase extra samples for this EQA  at the time of scheme purchase. There is a maximum of 2 extra sets per participant.

Approximately 1 – 2 µg DNA per additional sample set is provided. Complete information will be available in scheme instructions. 

Participants will receive a comprehensive individual data quality report and a variant consensus analysis report for each submission.

An addition individual report including performance evaluation will also be provided alongside a summary scheme report.

The summary report includes additional information from the cohort of participants including geographical spread, methodologies employed, common errors, learning points and scheme statistics allowing participants to benchmark their results.

Each laboratory will also receive a single certificate listing all EQAs participated in with performance result for each year.

Participants are expected to test samples according to their routine NGS strategy, to submit VCF, BED, FASTQ and BAM files for analysis.

Laboratories can submit up to three different SNV / indel data sets per participation, derived from different analyses of the EQA sample (e.g. different panels or methodologies). Laboratories must choose which of the submitted data sets are for SNV performance evaluation (minimum of 1 data set). Your EQA performance status will be based on the indicated data set(s).

Note: if you submit 3 data sets but indicate only 1 is for performance evaluation, the other 2 submitted data sets will be analysed for educational purposes only.

No restrictions on number of participants. Open to laboratories from ALL countries (note: some restrictions may apply due to sanctions, delivery network exceptions, restrictions on importation etc). This EQA is provided in collaboration with GenQA.