2020 Neurodegenerative Disorders

Scheme description
Molecular testing for dementia, Parkinson disease and Amylotrophic lateral sclerosis (ALS).
Disorders/Gene target(s)
Alzheimer disease
Frontotemporal dementia (FTD)
Amylotrophic lateral sclerosis (ALS)
Parkinson disease
APP, MAPT, C9orf72, PARK
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
All laboratories 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 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
2020ND
« Return to EQA scheme list
Go to top