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Enrolled participants will receive details by email when an EQA is open for assessment and/or samples have been dispatched.
Participants are expected to access the instructions and information for the cases/samples online and to analyse them according to their laboratory/centre protocols.
Participants must submit their anonymised results by the deadline using their standard laboratory report. The submitted results are independently assessed for the accuracy of the analytical/genotyping results, clinical interpretation of the results (if appropriate) and clerical accuracy (including report layout and content).
What can I expect as a participant?
Every participant will receive:
An Individual Laboratory/Centre Report (ILR/ICR) with educational advice for each distribution of this EQA.
The Summary report for each distribution of this EQA which contains information regarding general findings, a summary of methodologies used, common errors, number of participants and benchmarking.
Access to a live Performance Certificate summarising your performance status for all EQAs in which you are enrolled.
Please note: EQA details may be subject to change prior to EQA distribution.
PRODUCTS
Sample type: DNA in TE buffer
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.
Conditions/Gene target(s):
Myoclonic epilepsy with ragged red fibers (MERRF) syndrome
Neuropathy, ataxia, and retinitis pigmentosa (NARP) syndrome
m.3243A>G related disorders: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS), Maternally inherited diabetes and deafness (MIDD)
single mtDNA deletion disorders: Pearson syndrome, Kearns-Sayre syndrome
We aim to include a variety of disorders / scenarios / tests within each EQA. For this EQA you may opt out of any case if it is outside of your routine laboratory scope, by following the instructions in the EQA Distribution letter.
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