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Hereditary Hearing Loss

Product Code: 01-HHL-27

From £467.00

Deadline to order: 30/11/2026

Testing for Hereditary Hearing Loss. This EQA has options for panel testing and targeted DFNB1 (GJB2 and GJB6) testing

Target/Genes:

Testing of variants associated with hereditary hearing loss.  This EQA has options for:

  • Targeted testing of the GJB2 and GJB6 (DFNB1)
  • Hereditary hearing loss gene panel testing. The scope of this EQA is broadly in line with the genes designated high evidence (green) on the Genomics England Monogenic Hearing Loss Panel App

Technology:

CNV, MLPA, NGS, Panel testing, Sanger sequencing, Whole exome sequencing, Whole genome sequencing

Language:

English, French, German, Italian, Spanish

Sample Type:

DNA (in TE Buffer)

Accredited:

Yes

Sample dispatch to your laboratory:

Jan-27

Test and Submit Results:

January - March 2027 (for exact dates, please see scheme instructions)

Final Results and Certificate:

 August 2027

You can complete purchase on our secure partner site.

How it works

Register

  • Enrol before the closing date (30/11/2026)
  • EMQN ships EQA samples or digital cases

Test & submit results

  • Analyse samples in your routine workflow
  • Upload results via your website account (January - March 2027 (for exact dates, please see scheme instructions))

Review & get certified

  • EMQN assesses your data
  • Receive your individual results, EQA summary report & certificate of participation ( August 2027)

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

Three mock clinical cases with matching samples will be provided, 2 with matching samples and 1 virtual case.

Approximately 2.0µg DNA per sample is provided.

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 hereditary hearing loss. 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).

Enquire about this scheme

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