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Duchenne / Becker Muscular Dystrophy (DMD / BMD) and optional gene panel testing for muscular dystrophies / hereditary myopathies

Product Code: DMD-25

From £445.00

Registration closed: 30/11/2024

Applicable to all labs undertaking molecular genetic testing for these disorders.

Target/Genes:

Variants in the Dystrophin gene and an optional case involving other muscular dystrophy genes (e.g. CAPN3 and EMD) for laboratories that undertake muscular dystrophy gene panel testing.

Technology:

Any molecular test, CNV, MLPA, PCR based

Language:

Dutch, English, German

Sample Type:

DNA (in TE Buffer)

Accredited:

Yes

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EQA Assessment

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.

Sample Details

Four mock clinical cases with matching samples will be provided (one case is optional).

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

 No restrictions on number of participants. Open to
laboratories from ALL countries (note: some restrictions may apply*)

*Sanctions, delivery network exceptions, restrictions on
importation etc.

 

How it works

Register

  • Enrol before the closing date
  • EMQN ships EQA samples or digital cases

Test & submit results

  • Analyse samples in your routine workflow
  • Upload results via your website account

Review & get certified

  • EMQN assesses your data
  • Receive your individual results, EQA summary report & certificate of participation

Enquire about this scheme

Contact Information

Phone

+44 161 757 1591

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+44 161 757 1591

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Manchester
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office@emqn.org
+44 161 757 1591

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