2020 Microdeletion syndromes (pilot)

Scheme description
Fixed cell suspensions and DNA for FISH and MLPA analysis.for microdeletion syndromes e.g. Prader Willi syndrome, Williams syndrome.
Disorders/Gene target(s)
Microdeletion syndromes including:
Prader-Willi syndrome
Angelman syndrome
Williams syndrome
Di-George syndrome
Clinical cases
One
Testing/analysis
Testing of constitutional structural rearrangements by FISH or MLPA.
Testing to include microdeletion probes.
Sample type
Fixed cell suspensions
DNA in TE buffer
Techniques
FISH, MLPA
Assessment
Submit a report to include:
● Analysis of results
Performance criteria are applied.
Eligibility
All laboratories worldwide
Languages
English, French, German, Italian, Spanish.
ISO17043 Accredited EQA
No
EQA timeline
Sample dispatchTBC
Testing period4 weeks
Assessment results
Final Summary report
Other information
Fee
£100.00
GenQA code
2020MDFISH
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