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DNA SEQUENCING – NGS (Germline SNVs and indels)

Product Code: NGS(vGERMLINE)-25

From £715.00

Registration closed: 28/02/2025

Applicable to any labs using NGS as part of their germline testing process.

Target/Genes:

Participating laboratories can use any NGS strategy to participate (single gene, panel testing, whole exome sequencing or whole genome sequencing).

The scheme assesses all variants 50bp or less in size.

For larger changes (>50bp), including copy number and structural variants (CNV’s, SV’s), please see our DNA SEQUENCING – NGS CNV (Germline) EQA.

Technology:

NGS, Panel testing, Targeted testing, Whole exome sequencing, Whole genome analysis (CNV), Whole genome sequencing

Language:

Not applicable

Sample Type:

DNA (in TE Buffer)

Accredited:

Yes

EQA Assessment

This EQA is NOT suitable for laboratories doing somatic
mutation testing. Please see our DNA SEQUENCING – NGS (Somatic) schemes.

The scheme is designed to assess the analytical process (genotyping) and quality of NGS germline raw data.

Sample Details

One mock clinical case and matching sample will be provided.
Approximately 1.5- 2µg DNA per sample is provided. Complete information will be
available in the scheme instructions.

EQA Results

Participants will receive a comprehensive individual data quality report and a variant consensus analysis report for each submission. An addition individual report including performance evaluation will also be provided alongside a summary scheme report. The summary report 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

Contact Information

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