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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

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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

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 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

office@emqn.org

Phone

+44 161 757 1591

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Product Code: CAH-25

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Product Code: CAH-25

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- Language: English, German
- Accredited: Yes
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Registration closed: 28/02/2025

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Registration closed: 30/11/2024

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Congenital Adrenal Hyperplasia (CAH)

Target/Genes:

Technology:

Language:

Sample Type:

Accredited:

EQA Assessment

Sample Details

EQA Results

Participation Information

How it works

Register

Test & submit results

Review & get certified

Enquire about this scheme

Contact Information

Featured EQA Schemes

Charcot-Marie-Tooth disease / Hereditary Neuropathy with liability for Pressure Palsies (CMT/HNPP) (PMP22 and optional gene panel testing for other CMT-associated genes).

cfDNA extraction from plasma (Round 2)

Congenital Adrenal Hyperplasia (CAH)

Colorectal cancer [Tissue]

cfDNA extraction from plasma (Round 1)

Cardiac Genetics Gene Panel: Hypertrophic Cardiomyopathies

Breast cancer (ESR1 cfDNA testing) [Plasma]

Cardiac Genetics Gene Panel: Arrhythmias

Breast cancer (AKT pathway gene testing (PIK3CA, AKT1, PTEN) [Tissue]

Register Interest