2020 Non-invasive prenatal testing (NIPT) for common microdeletions (pilot)

Scheme description
Testing of maternal plasma for common microdeletions in the fetus.
Disorders/Gene target(s)
Common microdeletion syndromes including:
Prader Willi syndrome
Angelman syndrome
Williams syndrome
Di-George syndrome
Clinical cases
Two or three
Testing/analysis
Detection of common microdeletion syndromes.
Sample type
Maternal plasma
Techniques
Testing can be performed using any methodology.
Assessment
Submit a clinical report to include:
● Genotyping of results
● Interpretation of the result
● Clerical accuracy
This is a pilot EQA therefore no performance criteria will be applied.
Eligibility
All laboratories worldwide
Languages
English
ISO17043 Accredited EQA
No
EQA timeline
Sample dispatchSeptember 2020
Testing period6 weeks
Assessment results
Final Summary report
Other information
Fee
£375.00
GenQA code
2020NIPTMI
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