2020 Mitochondrial and POLG-related disorders

Scheme description
Molecular testing for Mitochondrial and POLG-related disorders.
Disorders/Gene target(s)
m.3243A>G related disorders
Myoclonic epilepsy with ragged red fibers (MERRF) syndrome
Neuropathy, ataxia, and retinitis pigmentosa (NARP) syndrome
Leigh syndrome
Leber's hereditary optic neuropathy (LHON)
POLG-related disorders
single mtDNA deletion disorders
Clinical cases
Four
Testing/analysis
Whole mitochondrial genome, single gene(s), common pathogenic variants, large-scale mtDNA rearrangements, including mtDNA NGS.
Determination of level of heteroplasmy.
Index case and familial/predictive testing.
Sample type
DNA in TE
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
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
2020MITO
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