Detection of HLA Alleles Associated with Diseases

The Department of HLA of the Institute of Hematology and Blood Transfusion (IHBT) organizes quality control “Detection of HLA alleles associated with diseases” since 2010.

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

We offer the following variants:

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)

5. C*06 (association with psoriasis)

6. B*57:01 (hypersensitivity to abacavir in HIV patients)

7. A*02:01 (treatment of uveal melanoma with Kimmtrak®)

8. C1/C2 haplotypes (infertility treatment)

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, results have to be in agreement with the organizer in ≥ 90% in the HLA allele genotyping. In the case of coeliac disease, the agreement has to be also in ≥ 90% in the serological equivalent category and in 100% in the assignment of the result to the correct risk category of association with coeliac disease (association present/rare/absent). All results and their evaluation are made available to EPT participants on the website https://ept-hla.uhkt.cz/. 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, a link and login details for the web interface for recording the results are sent to the participants. Participants pay a fee according to the selected variant of quality control on the basis of an invoice issued by the organizer.

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 March-June (5 samples), the second round in the period of August-December (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 the next year. Thank you for your understanding.

The other variants of the EPT, i. e. B*27, DQB1*06:02, DRB1 epitopes, C*06 and B*57:01, are organized in one round in the period of March-June (5 samples). Additional 5 samples can be sent upon request at no extra cost (10 samples in total).

Special round:​

If needed, it is possible to request a shipment of samples outside the regular quality control rounds or for variants that are not offered on a standard basis. Special rounds must be arranged with Ing. Milena Vraná. Samples are sent after submitting the official application for a special round. The price of the special round is increased by CZK 500 compared to a regular round. If you are interested in arranging the special round, please write to ept-hla@uhkt.cz. The special round may also be requested as a correction after failure in the regular round for all single-round EPT variants.

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

Vrana M, Tajtlova J and Mrazek F (2024)

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,

all EPTs for 2025 have been completed and evaluated.

In 2026, we are organizing the external proficiency testing „Detection of HLA Alleles Associated with Diseases” again. Information on the organization will be published here during January/February 2026.

If you are interested in participating in the EPT, you can send your applications and questions to ept-hla@uhkt.cz.

We are also organizing an accompanying HLA workshop „Detection of HLA Alleles Associated with Diseases“ for EPT participants in cooperation with the Immunogenetics Section of the Czech Society of Allergology and Clinical Immunology. The workshop will take place on the 18th of February 2026 at the Medical House of the Czech Medical Association of J. E. Purkyně in Prague. Further information will be added gradually on the workshop website. The workshop is held in Czech language.

• Recommendations for the diagnosis of HLA predisposition to celiac disease