2020 Postnatal constitutional Copy Number Variantion (CNV) detection

Scheme description
DNA analysis to detect aneuploidy and unbalanced rearrangements, using microarrays and NGS.
Disorders/Gene target(s)
Postnatal constitutional CNV detection - >50kb CNV loss and/or gain.
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 period7 weeks
Assessment resultsOctober 2020
Final Summary reportDecember 2020
Other information
In collaboration with EMQN
Fee
£375.00
GenQA code
2020CNVP
« Return to EQA scheme list
Go to top