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Congenital Adrenal Hyperplasia (CAH)

Product Code: CAH-25

From £445.00

Registration closed: 30/11/2024

Applicable to all labs undertaking molecular genetic testing for this disorder.

Target/Genes:

Variants in the CYP21A2 gene 

Technology:

CNV, MLPA, NGS, PCR based, Sanger sequencing, Southern blotting

Language:

English, German

Sample Type:

DNA (in TE Buffer)

Accredited:

Yes

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: two cases with corresponding DNA
samples, and one ‘virtual’ case with a genotype supplied in the scheme
instructions, for interpretation and reporting.

Approximately 4.0µg 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 QA Manager

Review & get certified

  • EMQN benchmarks your data
  • Receive final report & Certificate of Participation

Enquire about this scheme

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