2020 Linkage analysis (pilot)

Scheme description
Online case scenario requiring interpretation of linkage markers within a family for autosomal dominant (AD), autosomal recessive (AR) and X-linked (XL) disorders.
Disorders/Gene target(s)
Cystic fibrosis (CF)
Huntington disease (HD)
Duchenne muscular dystrophy (DMD)
Clinical cases
Three
Testing/analysis
A pedigree and results from analysis of linkage markers are provided.
Laboratories should interpret and report according to their laboratory policy.
Sample type
Online cases
Techniques
Any
Assessment
Interpretation
Eligibility
Open to all laboratories
Languages
English
ISO17043 Accredited EQA
No
EQA timeline
Sample dispatchAssessment opens October 2020
Testing period6 weeks
Assessment resultsDecember 2020
Final Summary reportFebruary 2021
Other information
This is an educational assessment only. Performance criteria will NOT be applied.
Fee
£100.00
GenQA code
2020LINK
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