2020 Charcot Marie Tooth disease (CMT) and related sensory and motor neuropathies

Scheme description
Molecular testing for Charcot Marie Tooth disease (CMT), Hereditary Liability to Pressure Palsies (HNPP), Hereditary Motor and Sensory Neuropathy (HMSN).
Disorders/Gene target(s)
Charcot Marie Tooth disease (CMT)
Hereditary Liability to Pressure Palsies (HNPP)
Hereditary Motor and Sensory Neuropathy (HMSN)
PMP22, MPZ, GJB1, MFN2
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 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
2020CMT
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