2020 Inborn Errors of Metabolism (IEM)

Scheme description
Molecular testing for Fabry disease, Tay Sachs disease, Gaucher disease and other IEM.
Disorders/Gene target(s)
Fabry disease
Gaucher disease
Tay-Sachs disease
MCADD
GLA, GBA, HEXA, ACADM
Clinical cases
Four
Testing/analysis
Gene panel, single gene, familial/predictive testing
Sample type
DNA in TE buffer
Techniques
Testing can be performed using 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 dispatchJune 2020
Testing period12 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
2020IEM
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