Icon-linkedin Youtube
Search
Contact us
Log in
Search
Contact us
Log in
Icon-linkedin Icon-x Youtube
Back to Schemes

DNA SEQUENCING – NGS (Germline) CNV testing

Product Code: NGS(vGERMLINE)[CNV]-25

From £505.00

Registration closed: 30/03/2025

Applicable to any labs using NGS as part of their germline CNV testing process. Pilot EQA Scheme.

Target/Genes:

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

The scheme assesses all variants >50bp in size.

For smaller changes (<50bp), including single nucleotide variants (SNV’s) and indels, please see our DNA SEQUENCING – NGS (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:

No

Register Interest Add to Wishlist

EQA Assessment

This EQA is NOT suitable for laboratories doing somatic
mutation testing. Please see our DNA SEQUENCING – SOMATIC schemes.

The scheme is designed to assess the variant calling process and quality of raw NGS germline CNV data. There will be no evaluation of performance status because this is a pilot EQA scheme.

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 NGS CNV submission. A comprehensive summary scheme report is provided including 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

Phone

+44 161 757 1591

Featured EQA Schemes

  • Genomic and Inherited Disorders

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

    Product Code: NGS(vGERMLINE)[CNV]-25

    From £445.00

    Deadline to order: 30/11/2025

    Applicable to all labs undertaking molecular genetic testing for these disorders.

    • Language: English, German
    • Accredited: Yes
    Buy Scheme More Information

  • Pre-analytical processes

    cfDNA extraction from plasma (Round 2)

    Product Code: NGS(vGERMLINE)[CNV]-25

    Free

    Registration closed: 31/03/2025

    Applicable for all labs extracting cfDNA from plasma. Two rounds of EQA per year – purchase each separately.
    This EQA will be distributed in SEPTEMBER 2025.

    • Language: English
    • Accredited: No
    Register Interest More Information

  • Genomic and Inherited Disorders

    Congenital Adrenal Hyperplasia (CAH)

    Product Code: NGS(vGERMLINE)[CNV]-25

    From £445.00

    Registration closed: 30/11/2024

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

    • Language: English, German
    • Accredited: Yes
    Register Interest More Information

  • Molecular Pathology

    Colorectal cancer [Tissue]

    Product Code: NGS(vGERMLINE)[CNV]-25

    From £630.00

    Registration closed: 28/02/2025

    Applicable to all labs undertaking molecular testing for this cancer using FFPE tissue.

    • Language: English
    • Accredited: Yes
    Register Interest More Information

  • Pre-analytical processes

    cfDNA extraction from plasma (Round 1)

    Product Code: NGS(vGERMLINE)[CNV]-25

    Free

    Registration closed: 28/02/2025

    Applicable for all labs extracting cfDNA from plasma. Two rounds of EQA per year – purchase each separately.
    This EQA will be distributed in MARCH 2025.

    • Language: English
    • Accredited: No
    Register Interest More Information

  • Genomic and Inherited Disorders

    Cardiac Genetics Gene Panel: Hypertrophic Cardiomyopathies

    Product Code: NGS(vGERMLINE)[CNV]-25

    From £445.00

    Registration closed: 30/11/2024

    Applicable to labs that undertake NGS-based testing for this group of disorders (including targeted panel testing/ virtual panel /clinical exome / WES / WGS)

    • Language: English
    • Accredited: Yes
    Register Interest More Information

  • Molecular Pathology

    Breast cancer (ESR1 cfDNA testing) [Plasma]

    Product Code: NGS(vGERMLINE)[CNV]-25

    From £285.00

    Registration closed: 28/02/2025

    Applicable to labs undertaking molecular testing of the ESR1 gene in cfDNA

    • Language: English
    • Accredited: No
    Register Interest More Information

  • Genomic and Inherited Disorders

    Cardiac Genetics Gene Panel: Arrhythmias

    Product Code: NGS(vGERMLINE)[CNV]-25

    From £445.00

    Registration closed: 30/11/2024

    Applicable to labs that undertake NGS-based testing for this group of disorders (including targeted panel testing/ virtual panel /clinical exome / WES / WGS)

    • Language: English, French
    • Accredited: Yes
    Register Interest More Information

  • Molecular Pathology

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

    Product Code: NGS(vGERMLINE)[CNV]-25

    From £285.00

    Registration closed: 28/02/2025

    Applicable to labs undertaking molecular testing of the PIK3CA, AKT1 and PTEN genes in this type of cancer.

    • Language: English
    • Accredited: Yes
    Register Interest More Information

added wishlist!
View Wishlist

0

View Wishlist

Register Interest

Express your interest in ''.

EMQN Office 

Third Floor, ICE Building, 3 Exchange Quay

Salford, M5 3ED

office@emqn.org 
+44 161 757 1591

Subscribe to our newsletter

Subscribe
Contact us for more information
Contact us
Click here for more information

Subscribe to our newsletter

Subscribe
Contact us for more information
Contact us

EMQN Office

Unit 4, Enterprise House
Pencroft Way
Manchester Science Park
Manchester
M15 6SE
UK

office@emqn.org
+44 161 757 1591

Click here for more information

Terms & Conditions | Privacy Policy 

©2025 EMQN. All rights reserved.