Mitochondrial DNA disorders
Testing for variants in the mitochondrial genome for the following mitochondrial disorders: MELAS, NARP, LHON, MERRF, Leigh syndrome, and Pearson syndrome.
Overview
The scheme is designed to assess the analytical
process (genotyping), and reporting (biological and clinical interpretation of
the test result) including the overall report layout, content and clerical
accuracy. If your laboratory does not provide clinical interpretation,
supporting information must be uploaded explaining the reason for this.
At a glance
Product Code:
01-MTD-27
Target/Genes:
Variants in mtDNA (mitochondrial genome). Mitochondrial disorders which MAY be covered by the EQA scheme include MELAS, NARP, LHON, MERRF, Leigh syndrome, and Pearson syndrome. Levels of homo/heteroplasmy will be assessed.
Technology:
CNV, MLPA, NGS, PCR based
Sample Type:
DNA (in TE Buffer)
Submit Results In:
English, French, German, Italian, Spanish
Accredited:
Yes
Key Dates
30/11/2026
Jan-27
January - March 2027 (for exact dates, please see scheme instructions)
August 2027
Sample Details
Three mock clinical cases: 2 with matching samples and 1 virtual case will
be provided.
Approximately 2µg DNA per sample is provided. Complete
information will be available in scheme instructions.
EQA Results
Participants
will receive an individual report including educational advice and a scheme
report which includes additional information from the cohort of participants
including geographical spread, methodologies employed, common errors, learning
points and scheme statistics allowing participants to benchmark their results.
Each
laboratory will also receive a single certificate listing all EQAs participated
in with performance result for each year.
Participation Information
Participants are expected to test samples according to their routine strategy, to return a clinical report and to complete the data collection form.
Laboratories are expected to provide information about the technical and clinical limitations of their assays. Levels of homo/heteroplasmy will be assessed.
No restrictions on number of participants. Open to laboratories from ALL countries (note: some restrictions may apply due to sanctions, delivery network exceptions, restrictions on importation etc).
Send your enquiry by submitting the form
Closes in 21 days
From £467.00
Buying is completed on the EMQN portal and needs a free EMQN account, which takes a few minutes to set up.
- ISO 17043 accredited scheme
- Submit results in 5 languages
Questions about this scheme?
Contact our team
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