Postnatal Constitutional CNV Detection
Postnatal Constitutional CNV Detection using array based, or NGS approaches (Germline DNA).
Overview
The scheme
is designed to assess the analytical process (genotyping), and reporting
(biological and clinical interpretation of the test result) including the
overall report layout, content and clerical accuracy.
At a glance
Product Code:
04-PCNV-27
Target/Genes:
Genomic deletions and duplications.
Technology:
Array based, CNV, NGS, Whole genome analysis (CNV)
Sample Type:
DNA (in TE Buffer)
Submit Results In:
English, French, German, Italian, Spanish
Accredited:
Yes
Key Dates
01/03/2027
May-27
May - August 2027
December 2027
Sample Details
Two mock clinical cases with matching samples will be
provided. Approximately 1µg DNA per sample is provided. Complete information will be
available in the scheme instructions.
EQA Results
Participants
will receive an individual report including educational advice and a scheme
report which 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.
Participation Information
Applicable to laboratories using either array or NGS based technologies to detect large scale genomic / structural changes and CNV. This EQA is platform independent.
Participants are expected to test samples according to their routine strategy and to return a clinical report.
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 scheme is run in collaboration with GenQA.
Send your enquiry by submitting the form
Closes in 112 days
From £505.00
Buying is completed on the EMQN portal and needs a free EMQN account, which takes a few minutes to set up.
- ISO 17043 accredited scheme
- Submit results in 5 languages
Questions about this scheme?
Contact our team
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