2019 Ataxia & spastic paraplegia

Scheme description
Molecular testing for a neurological ataxia disorders including Friedreich's ataxia, spinocerebellar ataxia and hereditary spastic paraplegia. DNA samples are distributed for three clinical case scenarios.
Scheme comments
One distribution per year (May). Sixteen weeks are provided for testing and reporting. EQA summary report and individual laboratory score report is published in November, followed by an appeals process with the final EQA summary report published in December. 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.
Enrolment available from
Friday 5th October 2018
Price
£370.00
Techniques
Testing can be performed using any methodology.
Type
Genotyping and Interpretation
Number of cases and sample type
DNA samples are distributed for three clinical case scenarios.
What is assessed?
Genotyping, interpretation of the result and clerical accuracy. Performance criteria will be applied.
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