2020 Prenatal constitutional Copy Number Variation (CNV) detection (previously Prenatal microarray)

Scheme description
DNA analysis using arrays/NGS to detect aneuploidy and unbalanced structural rearrangements.
Disorders/Gene target(s)
Prenatal constitutional CNV detection - >50kb CNV loss and/or gain in prenatal samples.
Clinical cases
Two
Testing/analysis
Copy number variant detection to genome wide resolution
Sample type
DNA in TE buffer
Techniques
Array, NGS
Assessment
Submit a clinical report to include:
● Analysis of results
● Interpretation of the result
● Clerical accuracy
Performance criteria are applied
Eligibility
All laboratories worldwide
Languages
English, French, German, Italian, Spanish.
ISO17043 Accredited EQA
Yes
EQA timeline
Sample dispatchMay 2020
Testing period5 weeks
Assessment resultsOctober 2020
Final Summary reportDecember 2020
Other information
Fee
£375.00
GenQA code
2020PNDAR
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