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

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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.

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 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

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)-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
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Pre-analytical processes

cfDNA extraction from plasma (Round 2)

Product Code: NGS(vGERMLINE)-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
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Genomic and Inherited Disorders

Congenital Adrenal Hyperplasia (CAH)

Product Code: NGS(vGERMLINE)-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
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Molecular Pathology

Colorectal cancer [Tissue]

Product Code: NGS(vGERMLINE)-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
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Pre-analytical processes

cfDNA extraction from plasma (Round 1)

Product Code: NGS(vGERMLINE)-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
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Genomic and Inherited Disorders

Cardiac Genetics Gene Panel: Hypertrophic Cardiomyopathies

Product Code: NGS(vGERMLINE)-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
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Molecular Pathology

Breast cancer (ESR1 cfDNA testing) [Plasma]

Product Code: NGS(vGERMLINE)-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
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Genomic and Inherited Disorders

Cardiac Genetics Gene Panel: Arrhythmias

Product Code: NGS(vGERMLINE)-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
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Molecular Pathology

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

Product Code: NGS(vGERMLINE)-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
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DNA SEQUENCING – NGS (Germline SNVs and indels)

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