Product Code: 01-POR-26
From £449.00 Early Bird
Early Bird Deadline: 31/10/2025
Deadline to order: 30/11/2025
Molecular genetic testing for patients with porphyria and familial cases (group of eight disorders of the heme biosynthesis pathway, as defined by Ipnet).
Variants in the most frequently analysed porphyria genes (for example PPOX, UROS, HMBS).
CNV, MLPA, NGS, Panel testing, PCR based, Sanger sequencing
English, French, German, Italian, Spanish
DNA (in TE Buffer)
Yes
January 2026
January - March 2026
August 2026
You can complete purchase on our secure partner site.
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.
Three mock clinical cases; 2 with matching samples and one virtual case will be provided.
Approximately 2.0µg DNA per sample is provided. Complete information will be available in scheme instructions.
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.
Participants are expected to test samples according to their routine strategy, to return a clinical report and to complete the data collection form.
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).
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