2020 Muscular Dystrophies

Scheme description
Molecular testing for childhood-onset and adult-onset muscular dystrophies (including BMD/DMD).
Disorders/Gene target(s)
Duchenne muscular dystrophy (DMD)
Becker muscular dystrophy (BMD)
Limb girdle muscular dystrophies (LGMD)
Emery-Dreifuss muscular dystrophies (EDMD)
Congenital muscular dystrophies (CMD)
dystrophin
Clinical cases
Three/Four
Testing/analysis
Gene panel, single gene and predictive/family tests
Sample type
DNA in TE buffer
Techniques
Any methodology.
Assessment
Submit a clinical report to include:
• Genotyping of results
• Interpretation of the result
• Clerical accuracy
Performance criteria are applied.
Eligibility
Any laboratory worldwide
Languages
English
ISO17043 Accredited EQA
Yes
EQA timeline
Sample dispatchMay 2020
Testing period16 weeks
Assessment resultsOctober 2020
Final Summary reportDecember 2020
Other information
Submit Gene panel details in the Targets Tested form.
If your laboratory does not routinely test for all of these diseases, then please contact GenQA.
The cases always include different disorders so you will be able to participate.
Fee
£375.00
GenQA code
2020MD
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