High rates of variation in HLA-DQ2/DQ8 testing for coeliac disease: results from an RCPAQAP pilot program

Journal of Clinical Pathology
Martin Patrick HoranTony Badrick

Abstract

Coeliac disease(CD) is a highly prevalent, gluten-dependent, autoimmune enteropathy. While the diagnosis is based on serological and histological criteria, genotyping of the human leucocyte antigens (HLA) DQ2 and DQ8 has been shown to have substantial clinical utility, especially in excluding the diagnosis in patients who do not carry either antigen. As a result, HLA genotyping is now being performed by more laboratories and has recently become one of the most frequently requested genetic tests in Australia. To date, there has been little scrutiny on the accuracy and reporting of results by laboratories new to HLA typing. In response to clinician feedback that identified potentially clinically significant discrepancies in HLA typing results, the Royal College of Pathologists of Australasia Quality Assurance Programs (RCPAQAP) undertook a pilot study to assess laboratory performance in the detection of HLA-DQ2/DQ8 and their associated HLA-DQA1 and HLA-DQB1 alleles. DNA was extracted from 5 patients and sent to 10 laboratories for external quality assurance (EQA) testing. Laboratories were assessed for reporting in genotyping, interpretation and methodology. Our findings showed that at least 80% of laboratories underperform with ...Continue Reading

References

Dec 27, 2011·Journal of Pediatric Gastroenterology and Nutrition·S HusbyUNKNOWN European Society for Pediatric Gastroenterology, Hepatology, and Nutrition
Apr 24, 2013·The American Journal of Gastroenterology·Alberto Rubio-TapiaUNKNOWN American College of Gastroenterology
Jun 12, 2014·Gut·Jonas F LudvigssonUNKNOWN British Society of Gastroenterology
Dec 19, 2016·Clinical & Translational Immunology·Melinda Y Hardy, Jason A Tye-Din
Aug 18, 2017·The Medical Journal of Australia·A James M DavesonJason A Tye-Din

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Citations

Nov 17, 2019·Journal of Gastroenterology and Hepatology·Hai-Yin JiangYu-Dan Shi
Jul 10, 2019·Gastroenterology Research and Practice·Atifete Ramosaj-MorinaRenata Zunec

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