Inherited Retinal Disorders (IRD)
Panel testing for isolated and syndromic Inherited Retinal Disorders (IRD) (Germline DNA). Includes one case involving a gene related to an approved/in trial therapy, and option for RPGR ORF15 testing.
Not available in China and Hong Kong in 2027 due to import restrictions.
Overview
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.
At a glance
Product Code:
01-IRD-27
Target/Genes:
This scheme is designed to support the correct identification of inherited retinal disorder (IRD) patients eligible for retinal gene therapies.
The scope of this scheme includes 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.
The scheme will include at least two cases for retinal dystrophy gene panel analysis one of which may be a "virtual" case.
Technology:
CNV, NGS, Panel testing, PCR based, Whole exome sequencing, Whole genome sequencing
Sample Type:
DNA (in TE Buffer)
Submit Results In:
English, French, German, Italian, Spanish
Accredited:
Pending
Key Dates
30/11/2026
Jan-27
January - March 2027 (for exact dates, please see scheme instructions)
August 2027
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
Participants are expected to test samples according to their routine strategy, to return a clinical report and to complete the data collection form.
Panel testing can be performed using any appropriate gene panel for retinal dystrophy. To account for differing panel compositions, variants outside the stated scope of an individual laboratory’s panel will be excluded from their assessment. Only variants that have been validated in the test samples will be assessed.
No restrictions on number of participants. Open to laboratories from ALL countries (note: some restrictions may apply due to sanctions, delivery network exceptions, restrictions on importation etc).
Send your enquiry by submitting the form
Closes in 21 days
From £467.00
Buying is completed on the EMQN portal and needs a free EMQN account, which takes a few minutes to set up.
- Submit results in 5 languages
Questions about this scheme?
Contact our team
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