Detection of HLA Alleles Associated with Diseases

This quality control is included among the international proficiency testing programs of the European Federation for Immunogenetics.

We offer the following options:

1. Alleles of DQ loci associated with coeliac disease (DQA1*02, *03, *05, DQB1*02, *03:02)
2. B*27 (association with Morbus Bechterev and other rheumatoid autoimmune diseases)
3. DQB1*06:02 (association with narcolepsy)
4. DRB1 epitopes (association with rheumatoid arthritis)

Results obtained from the participants are compared with the complete genotyping done by the organizer using standard operation procedures accredited by the Czech Accreditation Institute and the European Federation for Immunogenetics. For successful attendance, the participants have to be consistent with the organizer in ≥ 90% of HLA allele genotyping and in ≥ 90% of result interpretation in association to the disease. All results and their evaluation are summarized in a final report. Each laboratory receives a certificate of participation.

Guarantor: Ing. Milena Vraná

(NRL for DNA diagnostics ÚHKT, U Nemocnice 1, 128 20 Prague 2, milena.vrana@uhkt.cz)

Organization:

Anonymous DNA samples required for the EPT variants are sent to all participants who filled in the application form in sealed test tubes labeled with the sample identification number. Each tube contains 50 μl of DNA of a given concentration. At the same time an electronic form for table for recording the results is sent to the participants. Participants pay a fee according to the selected variant of quality control on te basis of an invoice issued by the organizer.

Recommendations for the interpretation of HLA tests for the diagnosis of coeliac disease can be found in the paper:

Harmonisation of the HLA tests for the diagnosis of coeliac disease: experiences from the Czech external proficiency testing program.

Front. Genet. 15:1441769.

doi: 10.3389/fgene.2024.1441769

Link to the article

Information on the currently ongoing EPT:

Dear colleagues,

as in previous years, in 2025 we are again organizing the external proficiency testing Detection of "HLA  Alleles Associated with Diseases". Information on the organization can be found below.

The organization of the variant “Alleles of DQ loci associated with coeliac disease” is divided into two rounds: the first round in the period of April - June 2025 (5 samples), the second round in the period of August-December 2025 (5 samples). According to your needs, you can choose to participate in the first and/or the second one. The second round can also be used as a corrective option in case of a failure in the first round. Please note that after the second round, no further corrective round is organized. In case of a failure in the second round, you can participate in the quality control testing in the spring of 2026. Thank you for your understanding. In your application form, please check which version you choose.

The other variants of the EPT, i. e. B*27, DQB1*06:02 and DRB1 epitopes, are organized in one round in the period of April - June 2025 (5 samples). For B*27 and DQB1*06:02 variant, 5 extra samples can be sent on a request (10 samples in total).

Application form: PT „Detection of HLA alleles associated with diseases 2025“

Please send a scan of your application form to ept-hla@uhkt.cz before 8th April 2025. The samples will be distributed by the end of April and we will expect your results to arrive on 31st May 2025 at the latest.

Please note that the procedure for evaluating the results has changed and is described in the Recommendations for the diagnosis of HLA predisposition to celiac disease, which can be found below.

• Recommendations for the diagnosis of HLA predisposition to celiac disease