Neuromuscular Disorders
Dystrophin gene and panel testing for Rare Neuromuscular Disorders (NMD) (germline DNA). This EQA has options for targeted DMD / BMD testing and/or NMD panel testing.
Overview
The scheme is designed to assess the entire diagnostic pipeline of a laboratory, including sample receipt and processing, analytical processing (genotyping), and reporting (biological and clinical interpretation of the test result) in the context of a clinical referral, as well as reporting clarity, content and clerical accuracy.
At a glance
Product Code:
01-NMD-27
Target/Genes:
Variants in the Dystrophin gene and panel testing for rare neuromuscular disorders.
This EQA has options for:
- DMD/BMD targeted testing
- Rare Neuromuscular Disorder (NMD) panel testing
- Rare Neuromuscular Disorder (NMD) panel testing AND DMD/BMD testing
Gene panel testing of genes associated with rare
neuromuscular disorders. The scope of this EQA is broadly in line with the
genes designated high evidence (green) on the Genomics
England NMD panel list.
Technology:
CNV, MLPA, NGS, Panel testing, PCR based, Whole exome sequencing, Whole genome sequencing
Sample Type:
DNA (in TE Buffer)
Submit Results In:
Dutch, 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, two with matching samples and one 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.
Panel testing can be performed using any appropriate panel for genes associated with muscular dystrophy. To account for differing panel compositions, variants outside the stated scope of an individual laboratory’s panel will be excluded from their assessment. Only variants that have been validated in the test samples 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 6 languages
Questions about this scheme?
Contact our team
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