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Next Generation Sequencing (NGS) technical EQA for germline testing of copy number variants (CNVs).
EQA INFORMATION
EQA Code
NGSGC
Submission
Variant data files
Techniques
Next Generation Sequencing (NGS)
Eligibility
All laboratories worldwide
Language
English only
EQA Accreditation
Currently not accredited
EQA open
22 September 2025
Testing period
Eight weeks
OTHER INFORMATION
Offered in collaboration with EMQN - please do not enrol with both EQA providers. Data collection, quality control (QC), storage and analysis to GenQA defined standards and requirements is subcontracted to a commercial company, Euformatics. What are participants required to do?
Enrolled participants will receive details by email when an EQA is open for assessment and/or samples have been dispatched.
Participants are expected to access the instructions and information for the cases/samples online and to analyse them according to their laboratory/centre protocols.
Participants must submit their data files by the deadline via the upload link provided by GenQA.
What can I expect as a participant?
Every participant will receive:
An Individual Laboratory/Centre Report (ILR/ICR) with educational advice for each distribution of this EQA.
A Variant Consensus Analysis Report containing assessment of all variants submitted.
A Data Quality Report containing quality metrics for benchmarking processes.
The Summary report for each distribution of this EQA which contains information regarding general findings, a summary of methodologies used, common errors, number of participants and benchmarking.
Access to a live Performance Certificate summarising your performance status for all EQAs in which you are enrolled.
Please note: EQA details may be subject to change prior to EQA distribution.
PRODUCTS
Sample type: DNA in TE buffer
Testing/analysis:
Test germline DNA for CNVs (>50 bp).
Submit VCF, BED, FASTQ and BAM files from your analysed data.
For 2024 one CNV data set can be submitted per participation.
For 2025 two CNV data sets can be submitted per participation.
Conditions/Gene target(s):
Assess the quality of your NGS sequencing.
Any platform/technology can be used.
Test a single gene, gene panels, exomes and/or whole genome sequencing.
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