Product Code: 01-MTD-27
From £467.00
Deadline to order: 30/11/2026
Testing for variants in the mitochondrial genome for the following mitochondrial disorders: MELAS, NARP, LHON, MERRF, Leigh syndrome, and Pearson syndrome.
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.
CNV, MLPA, NGS, PCR based
English, French, German, Italian, Spanish
DNA (in TE Buffer)
Yes
Jan-27
January - March 2027 (for exact dates, please see scheme instructions)
August 2027
You can complete purchase on our secure partner site.
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.
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.
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.
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).
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