Lymphoid Gene Panels (Pilot - Not Accredited)

* Please note, programme name was changed to Lymphoid Gene Panels (Pilot - Not Accredited) on 1st April 2022.

Lymphoid malignancies represent a heterogenous group of disorders with many overlapping biological and genetic features. Genomic data is becoming increasingly important to distinguish and classify these disorders. It is becoming deeply embedded in all aspects of patient management, providing important diagnostic and prognostic information initially and markers for measurable residual disease testing (MRD) post treatment. The increasing importance of genomic data has been acknowledged in the recent WHO5 guidelines (1).

High throughput sequencing methods have steadily evolved in recent years to allow the development of large lymphoid panels necessitating external quality assessment (EQA)/proficiency testing (PT) in this area. Initially this programme was launched as chronic lymphocytic leukaemia specific programme; however, from 2022/23 the programme was expanded to encompass a broader range of lymphoid neoplasms including e.g. acute lymphoblastic leukaemia, plasma cell dyscrasia (subject to sample material availability) to reflect the application of NGS panel testing to evermore lymphoid malignancies. 

Two distributions of one sample will be issued per annum, with clinical scenarios included to guide panel/bioinformatic analysis. 

IMPORTANT: We encourage laboratories to test all samples issued as part of the Lymphoid Gene Panels programme, even if the referral reason is suggestive of a lymphoid neoplasm that would not routinely be tested within the laboratory repertoire. Whilst a referral reason may provide  information on the potential lymphoid neoplasm, testing of all EQA sample distributions enables assessment of laboratory panels. There are likely to be samples issued where variants in genes overlap with multiple lymphoid neoplasms, providing insight into the performance of laboratory panels. Furthermore, this programme remains in pilot phase and is still developing and as such, is not currently performance monitored.

A range of sample types may be issued in this programme, including lyophilised cells [patient or cell line] or DNA in tris-EDTA (UK NEQAS LI will endeavour to offer an alternative sample type to those participants utilising RNA sequencing).  

Instructions for storage, reconstitution and use of the samples are included with the distribution.

Participants will be expected to test the sample with their in-house panels and report any clinically significant intragenic and/or regulatory element changes such as a nucleotide substitution, small insertion, small deletion or small duplication event. Participants will not be requested to report larger changes affecting genome architecture or copy number changes (>50 kb). 

To facilitate a quicker turnaround time for trial report publication, one distribution will focus on summarising the variants detected by participants (including methodological aspects) and the other will additionally provide educational elements related to variant interpretation/classification.

We acknowledge best practice in somatic variant interpretation is an evolving topic.   However, for further details regarding the classification terminology currently utilised for this programme please refer to Li MM et al. Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer. J Mol Diagn. 19(1):4-23 (2017).

Pre issue testing of samples for this programme is subcontracted, although the final decision about sample suitability lies with the EQA provider; no other activities in relation to this EQA programme are subcontracted.

Please note, for lymphoma related sequencing UK NEQAS LI are recruiting laboratories for a Lymphoma Liquid Biopsy pre pilot EQA study. To register for this study email admin@ukneqasli.co.uk. For further information, please see the programme page. 

This EQA programme does not cover the testing of lymphoma at diagnosis using paraffin embedded or fresh tumour material. An EQA for diagnostic lymphoma referrals is provided by GenQA (https://genqa.org/eqa).

1. Alaggio, R., Amador, C., Anagnostopoulos, I. et al. The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours: Lymphoid Neoplasms. Leukemia 36, 1720–1748 (2022).

To register for this programme, please click here.