Product Code: 03-NGSG-CNV-26
From £525.00
Deadline to order: 28/02/2026
EQA for quality of NGS for CNVs >50bp (Germline DNA). For whole exome or genome sequencing. Pilot EQA Scheme.
Participating laboratories can use whole exome or genome sequencing.
The scheme assesses all variants >50bp in size.
For smaller changes (<50bp), including single nucleotide variants (SNV’s) and indels, please see our DNA SEQUENCING – NGS (Germline) EQA.
NGS, Panel testing, Whole exome sequencing, Whole genome analysis (CNV), Whole genome sequencing
Not applicable
DNA (in TE Buffer)
No
September 2026
September - November 2026
You can complete purchase on our secure partner site.
This EQA is NOT suitable for laboratories doing somatic mutation testing. Please see our DNA SEQUENCING – SOMATIC schemes.
The scheme is designed to assess the variant calling process and quality of raw NGS germline CNV data. There will be no evaluation of performance status because this is a pilot EQA scheme.
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.
This EQA is only suitable for laboratories performing Whole Genome Sequencing (WGS) or Whole Exome Sequencing (WES). NOT laboratories performing targeted/panel NGS.
Participants will receive a comprehensive individual data quality report and a variant consensus analysis report for each NGS CNV submission.
A comprehensive summary scheme report is provided including 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 and to submit VCF, BED, FASTQ and BAM files for analysis.
Laboratories can submit two CNV data sets per participation.
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.
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