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Rare Neurological Disease gene panel

Product Code: RND-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)

Target/Genes:

  
Gene panel testing of genes associated with rare neurological disease (RND). The scope of this EQA is broadly in line with the genes designated high evidence (green) on the Genomics England  RND panel.
 
 

Technology:

CNV, MLPA, NGS, Panel testing, Whole exome sequencing, Whole genome sequencing

Language:

English

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 with matching samples will be provided

Approximately 2µg 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.


Collaboration with European Reference Network for Rare Neurological Diseases (ERN-RND) – see website for more information.

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

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+44 161 757 1591

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Pencroft Way
Manchester Science Park
Manchester
M15 6SE
UK

office@emqn.org
+44 161 757 1591

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