2020 Chromosome Breakage syndromes

Scheme description
Cytogenomic detection of chromosome breakage in Fanconi anaemia and other breakage disorders.
Disorders/Gene target(s)
Fanconi anaemia.
A second breakage disorder (e.g. Bloom syndrome, Nijmegen syndrome)
Clinical cases
Two
Testing/analysis
Online analysis of stained metaphase images from patients with chromosome breakage syndromes and a control sample.
Sample type
Metaphase images
Techniques
Metaphase analysis of solid stained chromosomes
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
No
EQA timeline
Sample dispatchMay 2020
Testing period5 weeks
Assessment resultsSeptember 2020
Final Summary reportOctober 2020
Other information
Fee
£375.00
GenQA code
2020FA
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