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Postnatal Constitutional CNV Detection

Product Code: 04-PCNV-27

From £505.00

Deadline to order: 01/03/2027

Postnatal Constitutional CNV Detection using array based, or NGS approaches (Germline DNA).

Target/Genes:

Genomic deletions and duplications.

Technology:

Array based, CNV, NGS, Whole genome analysis (CNV)

Language:

English, French, German, Italian, Spanish

Sample Type:

DNA (in TE Buffer)

Accredited:

Yes

Sample dispatch to your laboratory:

May-27

Test and Submit Results:

May - August 2027

Final Results and Certificate:

 December 2027

You can complete purchase on our secure partner site.

How it works

Register

  • Enrol before the closing date (01/03/2027)
  • EMQN ships EQA samples or digital cases

Test & submit results

  • Analyse samples in your routine workflow
  • Upload results via your website account (May - August 2027)

Review & get certified

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

EQA Assessment

The scheme is designed to assess the analytical process (genotyping), and reporting (biological and clinical interpretation of the test result) including the overall report layout, content and clerical accuracy.

Sample Details

Two mock clinical cases with matching samples will be provided. Approximately 1µg DNA per sample is provided. Complete information will be available in the 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

Applicable to laboratories using either array or NGS based technologies to detect large scale genomic / structural changes and CNV. This EQA is platform independent.

Participants are expected to test samples according to their routine strategy and to return a clinical report.

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).

 This EQA scheme is run in collaboration with GenQA.

Enquire about this scheme

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