2020 Ataxias and Hereditary Spastic Paraplegia (HSP)

Scheme description
Molecular testing for adult onset and childhood onset ataxias (including Hereditary spastic paraplegia).
Disorders/Gene target(s)
Friedreich ataxia
Spinocerebellar ataxia (SCA)
Hereditary Spastic Paraplegia (HSP)
Clinical cases
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
ISO1743 Accredited EQA
No
EQA timeline
Sample dispatchMay 2020
Testing period16 weeks
Assessment resultsOctober 2020
Final Summary reportDecember 2020
Other information
Submit Tandem repeat sizes in the Tandem Repeats form.
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
2020ATAX
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