A new<i><scp>HLA</scp>‐A*03</i>null allele – <i><scp>A</scp>*03:<scp>162N</scp></i>caused by an exon 4 insertion and discovered during an external quality assessment exercise

Bengtsson, Mats; Street, J.; Johnson, J.; Harvey, C.; Corbin, S. A.; Darke, C.

doi:10.1111/tan.12244

Cited by 4 publications

(1 citation statement)

References 7 publications

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“…The introduction of molecular typing in the 1990s shifted the focus to the detection of rare HLA alleles, or expression variants such null alleles. Over the years, testing of routine EPT samples has contributed to the identification of novel HLA alleles, including A*23:12 ( Hammond et al, 2006 ), A*11:15 ( Bendukidze et al, 2006 ), DQB1*02:01:04 ( Smillie et al, 2011 ), and A*03:162N ( Bengtsson et al, 2014 ).…”

Section: Educational Hla Typing Schemesmentioning

confidence: 99%

The history and evolution of HLA typing external proficiency testing schemes in UK NEQAS for H&I

De’Ath,

Rees,

Pritchard

2023

Front. Genet.

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The UK National External Quality Assessment Service (NEQAS) provide an external proficiency testing (EPT) service for clinical laboratories. UK NEQAS for Histocompatibility and Immunogenetics (H&I) has been providing EPT schemes for over 45 years and has grown during this time to provide 19 EPT schemes. Accurate human leucocyte antigen (HLA) typing is critical to support safe clinical services, including transplantation, therefore high quality, relevant EPT schemes are required as part of a laboratory’s quality assurance. This article reviews the development of the HLA typing EPT schemes, from the first HLA phenotyping scheme in 1975, via the first HLA genotyping scheme in 1992, through to the introduction in 2017 of HLA third field assessment results from next-generation sequencing technology. In addition, the introduction of EPT schemes to cover HLA associated diseases and pharmacogenetic reactions, including HLA-B27, HLA*B*57:01 and HLA-DQ for coeliac disease are discussed. The accuracy of laboratory EPT results for HLA phenotyping are >96% (2018–2022), HLA genotyping >99% (2020–2022), HLA-B27 testing >99% (2018–2022) and B*57:01 testing >99% (2017–2022). However, for HLA genotyping for coeliac disease 22%–46% of laboratories made errors in 2020–2022. On investigation, the high rate of unsatisfactory performance was attributed to laboratories lacking specific knowledge to interpret HLA genotyping results and accurately report HLA types for coeliac disease. A misleading commercial kit insert was also identified. The assessment of scheme results has uncovered several issues which have been addressed with the intention of educating participants and improving clinical services. The UK NEQAS for H&I EPT schemes have evolved over the past four decades to reflect changes in HLA typing technology, laboratory clinical practice and to cover post-analytical interpretative elements of HLA typing.

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Section: Educational Hla Typing Schemesmentioning

confidence: 99%

The history and evolution of HLA typing external proficiency testing schemes in UK NEQAS for H&I

De’Ath,

Rees,

Pritchard

2023

Front. Genet.

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Nomenclature for factors of the HLA system, update December 2013

Marsh¹

2014

Human Immunology

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Nomenclature for factors of the HLA system, update December 2013

Marsh¹

2014

Int J Immunogenetics

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A newHLA‐A03null allele – A03:162Ncaused by an exon 4 insertion and discovered during an external quality assessment exercise

Abstract: HLA-A03:162N differs from A03:01:01:01 by an exon 4, 664-665insCATG causing E198A and A199X.

Cited by 4 publications

References 7 publications

The history and evolution of HLA typing external proficiency testing schemes in UK NEQAS for H&I

The history and evolution of HLA typing external proficiency testing schemes in UK NEQAS for H&I

Nomenclature for factors of the HLA system, update December 2013

Nomenclature for factors of the HLA system, update December 2013

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A newHLA‐A*03null allele – A*03:162Ncaused by an exon 4 insertion and discovered during an external quality assessment exercise

Abstract: HLA-A*03:162N differs from A*03:01:01:01 by an exon 4, 664-665insCATG causing E198A and A199X.

Cited by 4 publications

References 7 publications

The history and evolution of HLA typing external proficiency testing schemes in UK NEQAS for H&I

The history and evolution of HLA typing external proficiency testing schemes in UK NEQAS for H&I

Nomenclature for factors of the HLA system, update December 2013

Nomenclature for factors of the HLA system, update December 2013

Contact Info

Product

Resources

About

A newHLA‐A03null allele – A03:162Ncaused by an exon 4 insertion and discovered during an external quality assessment exercise

Abstract: HLA-A03:162N differs from A03:01:01:01 by an exon 4, 664-665insCATG causing E198A and A199X.