UK NEQAS and BSHI guideline: Laboratory testing and clinical interpretation of HLA genotyping results supporting the diagnosis of coeliac disease.

Autor: Pritchard D; UK NEQAS for H&I, Velindre University NHS Trust, Cardiff, UK., Anand A; H&I Laboratory, North West London Pathology, Imperial College Healthcare NHS Trust, London, UK., De'Ath A; UK NEQAS for H&I, Velindre University NHS Trust, Cardiff, UK., Lee H; Transplantation Laboratory, Manchester Royal Infirmary, Manchester University NHS Foundation Trust, Manchester, UK., Rees MT; UK NEQAS for H&I, Velindre University NHS Trust, Cardiff, UK.
Jazyk: angličtina
Zdroj: International journal of immunogenetics [Int J Immunogenet] 2024 Jan; Vol. 51 Suppl 1, pp. 3-20. Date of Electronic Publication: 2023 Dec 28.
DOI: 10.1111/iji.12649
Abstrakt: Coeliac disease is a common immune-mediated inflammatory disorder caused by dietary gluten in genetically susceptible individuals. While the diagnosis of coeliac disease is based on serological and histological criteria, HLA-DQ genotyping can be useful, especially in excluding the diagnosis in patients who do not carry the relevant DQ heterodimers: DQA1*05 DQB1*02, DQB1*03:02 or DQA1*02 DQB1*02 (commonly referred to as DQ2.5, DQ8 and DQ2.2, respectively). External quality assessment results for HLA genotyping in coeliac disease have revealed concerning errors in HLA genotyping, reporting and clinical interpretation. In response, these guidelines have been developed as an evidence-based approach to guide laboratories undertaking HLA genotyping for coeliac disease and provide recommendations for reports to standardise and improve the communication of results.
(© 2023 John Wiley & Sons Ltd.)
Databáze: MEDLINE
Externí odkaz: