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Inherited Retinal Disorders (IRD)

Product Code: IRD-25

From £445.00

Registration closed: 28/02/2025

Applicable to all labs undertaking molecular genetic testing for syndromic and non-syndromic IRD.

Target/Genes:

This scheme is designed to support the correct identification of inherited retinal disorder (IRD) patients eligible for retinal gene therapies. 
**New for 2025: The scope of this scheme has been expanded to include genes known to cause both isolated and syndromic forms of IRD** 
Includes one case involving a gene related to an approved/in trial therapy, and one optional case for RPGR ORF15 testing (optional). 
 
The scheme will include at least two cases for retinal dystrophy gene panel analysis one of which may be a "virtual" case. 

Technology:

Any molecular test

Language:

English

Sample Type:

DNA (in TE Buffer)

Accredited:

No

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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

Four mock clinical cases with matching samples will be provided- a minimum of two NGS panel testing (one of which may be a "virtual" case), one case involving a variant in a gene related to an approved/in trial therapy, and one optional case for RPGR ORF15testing. Laboratories that do not perform RPGR ORF15 testing are not required to participate in the optional case.

Approximately 1.0-2.0µg 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.

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

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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