Molecular Haemato-Oncology Programmes

If you have chosen to participate in any Molecular Haemato-oncology EQA programme except Chimerism you will receive a lyophilised cell-line/patient sample preparation for molecular analysis. Instructions for storage, reconstitution and use of the lyophilised sample will be included with the sample. Prior to reconstitution, the lyophilised cells are stable at ambient temperature however, once the cells are reconstituted they should be processed immediately.

Please note- all lyophilised samples provided within these programmes are for EQA purposes only.

If you have chosen to participate in the Chimerism programme (and in some circumstances Ig/TCR clonality trials) you will currently receive fresh blood samples. Upon receipt, these samples should be processed immediately to prevent any degradation of the DNA.

New for 2026-2027

As part of the continuous development of our EQA/PT provision we will be introducing several updates to our molecular haemato-oncology programmes in 2024-2025.

Extending Accreditation for the Myeloproliferative Neoplasms Diagnostic Testing programme

Following the successful consolidation of the JAK2 p.Val617Phe) Mutation Status and the Myeloproliferative Neoplasms Diagnostic Testing programmes in the 2024-2025 registration period we will be applying to extend accreditation beyond qualitative JAK2 V617F testing. This will include the remaining three core MPN markers (JAK2 exon 12, CALR exon 9 and MPL exon 10 variants) as well as quantitative testing of JAK2 V617F. Please note that testing for all markers will not be mandatory; participants are required to submit results only for assays provided by their laboratory.

Pilot Liquid Biopsy in DLBCL EQA Study

UK NEQAS LI hope to run a small pilot study assessing the use of next generation sequencing based liquid biopsy testing in diffuse large B cell lymphoma, if there is sufficient interest. Please contact us if you wish to be part of this study (admin@ukneqasli.co.uk).

Minor Programme Changes

In 2026-2027, we will be making several minor changes to the molecular haemato-oncology programmes, to include: automating data analysis and reporting in the Lymphoplasmacytic Lymphoma/Waldenstrom Macroglobulinaemia programme; improvement of the data entry page to capture digital PCR/Cepheid data in the BCR::ABL1 Minor Quantification programme.

Webinar Plans

We will be hosting a webinar in March 2026. This will focus on how leukaemia diagnosis is changing in the light of greater scientific understanding and technological advances. We will discuss how the UK NEQAS LI programmes are evolving to support this.

Please see programme specific pages on our website for further details.

* denotes changes to the programme in 2026/2027

Please see programme specific pages below for further details.

BCR::ABL1 and AML Translocation Identification (Accredited)

Programme objective:

To assess a laboratory’s ability to accurately determine t(9;22) BCR::ABL1 (Major and Minor breakpoints), t(8;21) RUNX1::RUNX1T1, inv(16) CBFB::MYH11 and t(15;17) PML::RARA rearrangement status by molecular methods.

Clinical/scientific background:

Detecting the presence of the Philadelphia chromosome (fusion of the BCR gene on Chromosome 22 to the ABL1 gene on chromosome 9) is essential in the diagnosis of Chronic Myeloid Leukaemia and initiation of Tyrosine Kinase Inhibitor (TKI) therapy. Acute Myeloid Leukaemia (AML) is a heterogeneous group of disorders that is further classified by the presence of clinically significant genetic variants, including fusion oncogenes resulting from recurrent chromosomal rearrangements. The ability to determine the presence of such rearrangements is therefore essential in the treatment and prognosis of AML.

Suitability:

Participation in this External Quality Assessment (EQA) programme is open to laboratories employing any RNA/DNA-based molecular genetic approach for the detection of t(9;22) BCR::ABL1, inv(16) MYH11::CBFB, t(8;21), RUNX1::RUNX1T1 and/or t(15;17) PML::RARA rearrangement(s). It is not mandatory to submit results for all rearrangements included in the scope of this programme; participants can submit a subset of results according to their laboratory test repertoire.

All EQA programme communications, data entry, and reports will be conducted exclusively in the English language. Participants must ensure proficiency in English to fully engage in the programme.

The programme welcomes participation from diverse sectors including:

Clinical Healthcare Laboratories
Academic and Research Institutions
In Vitro Diagnostics (IVD) Manufacturers
Pharmaceutical companies

Minimum participation level 30, maximum participation level 400.

Sample type/distribution:

Two lyophilised cell line-based samples are issued three times per annum, one for BCR::ABL1 analysis and one for AML rearrangement analysis. Additional educational samples may also be provided e.g. featuring a rare BCR::ABL1 transcript or a further clinically significant rearrangement associated with AML. All samples mimic diagnostic specimens and are therefore not suitable for Measurable Residual Disease (MRD) analysis. Participants are asked to submit qualitative results together with details of the methodology used. Instructions for storage, reconstitution and use of the lyophilised samples are included with the samples. The trial schedule can be found here: https://www.ukneqasli.co.uk/eqa-pt-programmes/trial-schedules/

Trial duration:

Trials for this programme are live/open for a minimum of four weeks. Please note, trials issued/closing in August or December are extended by one week. An automated email is sent two days prior to the trial closing, to any participant that has not returned results, warning them of the trial closure date.

Subcontracted areas:

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

Updates to the programme for current or upcoming year:

We plan to issue an educational sample featuring a rare BCR::ABL1 transcript within the next 12 months.

Fusion Gene Nomenclature Following publication of the HUGO Gene Nomenclature Committee (HGNC) consensus statement regarding fusion gene nomenclature¹, UK NEQAS LI are working to implement use of the double colon (::) for the description of fusion genes (e.g. BCR::ABL1). Historical nomenclature (e.g. BCR–ABL1) may persist in some areas of our website and documentation for an interim period due to IT constraints.

To register for this programme, please click here

References:

1. Bruford EA, et al. HUGO Gene Nomenclature Committee (HGNC) recommendations for the designation of gene fusions. Leukemia 35:3040–3043 (2021).

BCR::ABL1 Kinase Domain Variant (Mutation) Status (Accredited)

Programme objective:

To assess a laboratory’s ability to qualitatively detect (and describe using standardised nomenclature) clinically relevant BCR::ABL1 kinase domain variants (mutations) using molecular methods.

Clinical/scientific background:

The introduction of tyrosine kinase inhibitors (TKIs), initially with imatinib and subsequently further generations of TKIs, significantly changed the clinical management of patients with chronic myeloid leukaemia (CML) and to a degree those with Philadelphia positive (Ph+) acute lymphoblastic leukaemia (ALL).

Despite their clinical success, some patients experience progressive TKI resistance after an initial response. Over 100 different point mutations (variants) in the BCR::ABL1 kinase domain (KD) have been identified in CML and Ph+ ALL patients with TKI resistance. This programme focuses on detection of a subset of variants (mutations) with conclusive in vitro sensitivity and patient resistance profile evidence, which play an important role in therapeutic decision making; particularly when switching TKI treatment. Of note, the detection of the p.Thr315Ile (T315I) variant (mutation) is a poor prognosis marker conferring resistance to first and second generation TKIs.

Suitability:

Participation in this External Quality Assessment (EQA) programme is open to laboratories employing any RNA-based molecular genetic approach for the detection of BCR::ABL1 kinase domain variants, including by Sanger sequencing or NGS analysis of cDNA.

Please note, this programme utilises mouse cell lines stably transfected with BCR::ABL1 cDNA constructs that do not feature introns and as such may not be compatible with some genomic DNA based assays. The current ELN guidelines (Cross et al., 2023) recommend that cDNA is used as input material for BCR::ABL1 kinase domain assays. The authors do note that high sensitivity techniques could circumvent the targeted amplification of BCR::ABL1 fusion transcripts but state a systematic comparison would be needed before gDNA strategies could be endorsed. Please contact admin@ukneqasli.co.uk if you use a genomic DNA-based assay.

All EQA programme communications, data entry, and reports will be conducted exclusively in the English language. Participants must ensure proficiency in English to fully engage in the programme.

The programme welcomes participation from diverse sectors including:

Clinical Healthcare Laboratories
Academic and Research Institutions
In Vitro Diagnostics (IVD) Manufacturers
Pharmaceutical companies

Minimum participation level 30, maximum participation level 400 laboratories.

Cross, N.C.P., Ernst, T., Branford, S. et al. European LeukemiaNet laboratory recommendations for the diagnosis and management of chronic myeloid leukemia. Leukemia 37, 2150–2167 (2023).

Sample type/distribution:

Two lyophilised cell line-based samples are issued three times per annum. Trial schedule can be found here: https://www.ukneqasli.co.uk/eqa-pt-programmes/trial-schedules/

Laboratories are asked to submit (using Human Genome Variation Society (HGVS) recommended standardised sequence variant nomenclature) any clinically actionable BCR::ABL1 kinase domain variant(s) detected, along with details of their methodology. The programme is qualitative; however, optional quantitative information (‘mutation load’) may also be submitted for educational purposes.

An additional educational sample(s) featuring a ‘low level’ variant(s) (approximately 5-20% VAF) or variant(s) present on a low abundance BCR::ABL1 transcript, may be included in a given distribution; however, the result of this sample(s) will not be subject to performance monitoring.

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

Trial duration:

Trials for this programme are live/open for a minimum of 4 weeks. Please note that trials issued/closing in August or December are extended by 1 week.

Subcontracted areas:

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

Updates to the programme for current or upcoming year:

Samples will continue to be formulated with the aim of suitability for analysis by several commonly employed techniques, including Sanger sequencing (variant(s) representing >20% VAF). An additional low-level variant(s) sample(s) (5-20% target VAF) will be periodically provided as an educational exercise. Variants <5% VAF are beyond the scope of the current scheme.

The performance monitoring system for this programme references Human Genome Variation Society (HGVS) Nomenclature v21.1.

To register for this programme, please click here

BCR::ABL1 Major Quantification (Accredited)

Programme objective:

To assess a laboratory’s ability to accurately quantify the major (p210) BCR::ABL1 transcript at clinically relevant disease monitoring levels, using molecular methods.

Clinical/scientific background:

The quantification of the BCR::ABL1 transcript through molecular diagnostic techniques, such as reverse transcriptase quantitative PCR (RT-PCR) and digital PCR (RTdPCR), is essential for managing patients with chronic myeloid leukaemia (CML) and other BCR::ABL1positive leukemia. These techniques are pivotal in monitoring the response to tyrosine kinase inhibitor (TKI) therapy, which is critical for improving patient outcomes.

Recent scientific updates and guideline revisions, including those from the European LeukemiaNet (ELN), emphasise the significance of achieving a major molecular response (MMR), defined as BCR::ABL1 levels ≤ 0.1% on the International Scale (IS). Achieving deeper molecular responses, such as MR 4.0 and MR 4.5, which correspond to BCR::ABL1^IS levels of ≤0.01% and ≤0.0032% respectively, are indicative of measurable residual disease and can influence decisions regarding the modification or cessation of therapy in stable patients.

Suitability:

Participation in this External Quality Assessment (EQA) programme is open to laboratories employing any RNA-based molecular genetic approach for the quantification of the BCR::ABL1 major transcript (e14a2, p210).

All EQA programme communications, data entry, and reports will be conducted exclusively in the English language. Participants must ensure proficiency in English to fully engage in the programme.

The programme welcomes participation from diverse sectors including:

Clinical Healthcare Laboratories
Academic and Research Institutions
In Vitro Diagnostics (IVD) Manufacturers
Pharmaceutical companies

Minimum participation level 30, maximum participation level 400.

Sample type/distribution:

Two lyophilised cell line-based samples are issued three times per annum, plus additional samples e.g. rare transcript or <MR 4.0 samples. Trial schedule can be found here: https://www.ukneqasli.co.uk/eqa-pt-programmes/trial-schedules/

Trial duration:

Standardly trials for this programme are live/open for a minimum of 4 weeks. Please note, trials issued/closing in August or December are extended by 1 week. An automated email is sent 2 days prior to the trial closing, to any participant that has not returned results, warning them of the trial closure date.

Subcontracted areas:

Updates to the programme for current or upcoming year:

please note that we plan to include scored e13a2 positive samples to supplement the e14a2 positive samples. In addition to this we hope to issue educational samples at MR4.0 or lower.

To register for this programme, please click here

BCR::ABL1 Minor Quantification (Accredited)

Programme objective:

To assess a laboratory’s ability to accurately quantify the minor (p190) BCR::ABL1 (e1a2) transcript at clinically relevant disease monitoring levels, using molecular methods.

Clinical/scientific background:

BCR::ABL1 rearrangements at the minor breakpoint cluster region (m-BCR), leading to production of the p190 fusion protein, are most frequently associated with Ph-positive Acute Lymphocytic Leukaemia (ALL) and a subset of Chronic Myeloid Leukaemia (CML) patients. Quantification of minor BCR::ABL1 transcript (e1a2) levels can be utilised to monitor patient response to treatment and disease recurrence.

Suitability:

Participation in this External Quality Assessment (EQA) programme is open to laboratories employing any RNA-based molecular genetic approach for the detection (and quantification) of the BCR::ABL1 minor transcript (e1a2, p190).

All EQA programme communications, data entry, and reports will be conducted exclusively in the English language. Participants must ensure proficiency in English to fully engage in the programme.

The programme welcomes participation from diverse sectors including:

Clinical Healthcare Laboratories
Academic and Research Institutions
In Vitro Diagnostics (IVD) Manufacturers
Pharmaceutical companies

Minimum participation level 30, maximum participation level 400 laboratories.

Sample type/distribution:

Two lyophilised cell line-based samples are issued three times per annum. Trial schedule can be found here: https://www.uknegasli.co.uk/ega-pt-programmes/trial-schedules/

Participants are asked to submit quantitative results as % ratio BCR::ABL1/reference gene together with details of their methodology. Instructions for the storage, reconstitution and use of the lyophilised samples are included with each sample distribution.

Trial duration:

Trials for this programme are live/open for a minimum of 4 weeks. Please note that trials issued/closing in August or December are extended by 1 week. An automated email is sent 2 days prior to the trial closing, to any participant that has not returned results, warning them of the trial closure date.

Subcontracted areas:

Updates to the programme for current or upcoming year:

A review of current online data entry fields is planned during 2026-2027 with subsequent modification, where possible, to better accommodate digital PCR and Cepheid Xpert platform users.

To register for this programme, please click here

BRAF p.Val600Glu (V600E) Mutation Status for Hairy Cell Leukaemia (Accredited)

Programme objective:

To assess a laboratory’s ability to accurately detect the NM_004333.6(BRAF):c.1799T>A p.(Val600Glu) variant.

Clinical/scientific background:

Publications have shown that all cases of Hairy Cell Leukaemia (HCL) harbour the BRAF p.(Val600Glu) variant. The analysis of BRAF p.(Val600Glu) is therefore a useful tool in the differential diagnosis of mature B-cell neoplasms. HCL consensus guidelines¹ recommend the use of highly sensitive assays as leukaemic cells are often present in peripheral blood samples at levels as low as 2-10%^2-4.

Suitability:

Participation in this External Quality Assessment (EQA) programme is open to laboratories employing any DNA/RNA-based molecular genetic approach for the detection of the BRAF c.1799T>A p.(Val600Glu) variant in HCL. However, please note that our samples are not suitable for performing cellular enrichment – please contact us if your standard assay incorporates an enrichment step (admin@ukneqasli.co.uk).

All EQA programme communications, data entry, and reports will be conducted exclusively in the English language. Participants must ensure proficiency in English to fully engage in the programme.

The programme welcomes participation from diverse sectors including:

Clinical Healthcare Laboratories
Academic and Research Institutions
In Vitro Diagnostics (IVD) Manufacturers
Pharmaceutical companies

Minimum participation level 30, maximum participation level 400.

Sample type/distribution:

Two lyophilised cell line-based samples are issued three times per annum. Samples will reflect the range of variant allele burdens observed in clinical samples at diagnosis of HCL. Participants are asked to submit qualitative results together with details of the methodology used. Instructions for storage, reconstitution and use of the lyophilised samples are included with the samples. The trial schedule can be found here: https://www.ukneqasli.co.uk/eqa-pt-programmes/trial-schedules/

Trial duration:

Subcontracted areas:

Updates to the programme for current or upcoming year:

Periodically we give laboratories the option of returning quantitative results. Whilst this allows participants to compare their results with the trial statistics, it is not currently a compulsory part of the programme, nor is it subject to performance monitoring.

To register for this programme, please click here

References:

Grever, M. R. et al. Consensus guidelines for the diagnosis and management of patients with classic hairy cell leukemia. Blood 129: 553–560 (2017).
Cornfield, D. B. et al. The diagnosis of hairy cell leukemia can be established by flow cytometric analysis of peripheral blood, even in patients with low levels of circulating malignant cells. Am J Hematol 67: 223–226 (2001).
Arcaini, L. et al. The BRAF V600E mutation in hairy cell leukemia and other mature B-cell neoplasms. Blood 119(1): 188-91 (2012).
Tiacci, E. et al. Simple genetic diagnosis of hairy cell leukemia by sensitive detection of the BRAF-V600E mutation. Blood 119(1): 192-5 (2012).

Diffuse large B cell lymphoma liquid biopsy study

UK NEQAS LI will be running a small study where laboratories will be requested to detect and quantify any pathogenic intragenic and/or regulatory element changes such as point mutations, small insertion, deletion and duplications events down to MRD present in cell free DNA (cfDNA), standardly in blood plasma, but occasionally in other bodily fluids e.g. cerebrospinal fluid, used to manage patients with lymphoma. A diagnostic clinical scenario will be provided to inform participants of what trackable markers were detected at diagnosis. For more information please contact admin@ukneqasli.co.uk

FLT3 Mutation Status (Accredited)

Programme objective:

To assess a laboratory’s ability to accurately detect FLT3 Internal Tandem Duplications (ITD) mutation (variant) status, using molecular methods.

Clinical/scientific background:

FLT3 is a member of the platelet-derived growth factor receptor subfamily, with 2 types of variants having prognostic significance in AML. FLT3 ITD result in an in-frame duplication of a region of the juxtamembrane domain, allowing ligand-independent dimerisation of the receptor to occur, leading to activation of the kinase and the downstream signalling pathways. The second type of variants observed in FLT3 are in the tyrosine kinase domain (TKD), with the most common variants affecting p.Asp835/p.Ile836 resulting in amino acid substitution/deletion. Variants affecting these amino acids again lead to ligand-independent dimerisation of the receptor and therefore activation of the kinase and the downstream signalling pathways.

Suitability:

Participation in this External Quality Assessment (EQA) programme is open to laboratories employing any DNA/RNA-based molecular genetic approach for the detection of FLT3 ITD variants.

All EQA programme communications, data entry, and reports will be conducted exclusively in the English language. Participants must ensure proficiency in English to fully engage in the programme.

The programme welcomes participation from diverse sectors including:

Clinical Healthcare Laboratories
Academic and Research Institutions
In Vitro Diagnostics (IVD) Manufacturers
Pharmaceutical companies

Minimum participation level 30, maximum participation level 400.

Sample type/distribution:

Two lyophilised cell line-based samples are issued three times per annum plus additional samples e.g. low level ITD or FLT3 TKD (p.Asp835/p.Ile836) samples. Trial schedule can be found here: https://www.ukneqasli.co.uk/eqa-pt-programmes/trial-schedules/

Trial duration:

Subcontracted areas:

Updates to the programme for current or upcoming year:

We continue to issue one educational sample per trial distribution, formulated from whole genome amplified, patient DNA for FLT3 TKD (p.Asp835/p.Ile836) analysis.

To register for this programme, please click here

IG/TCR Clonality Status (Accredited)

Programme objective:

To assess a laboratory’s ability to accurately determine IG and/or TCR clonality status, using molecular methods.

Clinical/scientific background:

The diagnosis of lymphoid malignancy can be a challenge that requires many different disciplines of pathology. Molecular analysis of clonality is a valuable supplementary tool, as in principle, all cells of a malignancy have a common clonal origin. Among the various markers used for detecting clonality in suspected lymphoproliferative disorders, gene rearrangements of the immunoglobulin (IG) and T-cell receptor (TCR) stand out as the most commonly utilised targets. These IG and TCR rearrangements occur from the earliest stages of B-cell and T-cell development onward. A random combination of one variable (V), diversity (D), and joining (J) gene segment results in the formation of a unique V(D)J exon that encodes the actual antigen-binding region of the IG or TCR chain. Consequently, each lymphocyte possesses a unique antigen receptor molecule on its surface, and the likelihood that two different lymphocytes coincidentally bear identical receptors is negligible. Therefore, identical rearrangements do not originate from multiple independently generated cells but rather reflect the clonal nature of the cell population involved. Assessing whether the genetic rearrangements exhibit a homogeneous or heterogeneous pattern is therefore the fundamental principle behind clonality testing.

Suitability:

Participation in this External Quality Assessment (EQA) programme is open to laboratories employing any DNA/RNA-based molecular genetic approach for the determination of IG and/or TCR clonality status.

All EQA programme communications, data entry, and reports will be conducted exclusively in the English language. Participants must ensure proficiency in English to fully engage in the programme.

The programme welcomes participation from diverse sectors including:

Clinical Healthcare Laboratories
Academic and Research Institutions
In Vitro Diagnostics (IVD) Manufacturers
Pharmaceutical companies

Minimum participation level 30, maximum participation level 400.

Sample type/distribution:

Two lyophilised cell based (cell line, patient or buffy coat) samples are issued three times per annum. Trial schedule can be found here: https://www.ukneqasli.co.uk/eqa-pt-programmes/trial-schedules/

Trial duration:

Subcontracted areas:

Updates to the programme for current or upcoming year:

Electronic educational traces are planned during the trial year.

To register for this programme, please click here

KIT p.Asp816Val (D816V) Mutation Status for Mast Cell Disease (Accredited)

Programme objective:

To assess a laboratory’s ability to accurately detect the KIT NM_000222.3:c.2447A>T p.(Asp816Val) variant.

Clinical/scientific background:

Mastocytosis, a rare clonal disorder of the mast cell, is frequently associated with somatic activating variants (mutations) within KIT, most commonly p.Asp816Val. Approximately 95% of systemic mastocytosis patients are positive for p.Asp816Val when an assay with appropriate sensitivity is utilised. The detection of KIT p.Asp816Val is not only important diagnostically but also for therapeutic decision making, as the p.Asp816Val variant also confers resistance to some tyrosine kinase inhibitors (TKIs).

Suitability:

Participation in this External Quality Assessment (EQA) programme is open to laboratories employing any DNA/RNA-based molecular genetic approach for the detection of the KIT NM_000222.3:c.2447A>T p.(Asp816Val) variant.

Please note, the EU-US Cooperative Group guidelines (Hoermann et al., 2022) highlight that KIT p.Asp816Val expressed allele burden (RNA/cDNA assay input material) should be considered a distinct biomarker and is not interchangeable with genomic DNA based results. Therefore, any participant (in the minority) utilising RNA/cDNA as assay input material should not use the educational genomic DNA derived quantification statistics in the trial report to benchmark the performance of their assay. We recognise the limitations of this EQA programme.

Note the lyophilised samples provided for this trial are not suitable for mast cell enrichment pre-processing. Please contact admin@ukneqasli.co.uk if you use an enrichment approach to mitigate assay analytical sensitivity limitations.

All EQA programme communications, data entry, and reports will be conducted exclusively in the English language. Participants must ensure proficiency in English to fully engage in the programme.

The programme welcomes participation from diverse sectors including:

Clinical Healthcare Laboratories
Academic and Research Institutions
In Vitro Diagnostics (IVD) Manufacturers
Pharmaceutical companies

Minimum participation level 30, maximum participation level 400 laboratories.

Hoermann G. et al. Standards of genetic testing in the giagnosis and prognostication of Systemic Mastocytosis in 2022: Recommendations of the EU-US Cooperative Group. J Allergy Clin Immunol Pract. 10, 1953-1963 (2022).

Sample type/distribution:

Two lyophilised cell line-based samples are issued three times per annum. Trial schedule can be found here: https://www.uknegasli.co.uk/ega-pt-programmes/trial-schedules/

Participants are asked to submit qualitative results for KIT p.Asp816Val variant (mutation) status analysis, together with details of their methodology. Optional quantitative information (‘mutation load’) may also be submitted for educational purposes.

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

Trial duration:

Subcontracted areas:

Updates to the programme for current or upcoming year:

Optional clinically relevant educational sample(s) formulated to challenge assay analytical sensitivity will continue to be periodically issued.

To register for this programme, please click here

Lymphoid Gene Panels (Pilot – Not Accredited)

Programme objective:

To assess a laboratory’s ability to accurately determine genetic status in lymphoid malignancies, using high throughput sequencing methods.

Clinical/scientific background:

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 guidelines¹.

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 for example, acute lymphoblastic leukaemia, plasma cell dyscrasia (subject to sample material availability) to reflect the application of NGS panel testing to evermore lymphoid malignancies.

Suitability:

Participation in this External Quality Assessment (EQA) programme is open to laboratories employing any high throughput DNA-based sequencing panel approach for the evaluation of genetic status in lymphoid neoplasms.

Please note, the programme may distribute extracted genomic DNA or patient material which was processed >48 hours following collection, which is not suitable for an RNA/transcriptome-based assay. Please contact admin@ukneqasli.co.uk if you use RNA as the primary input material for your assay.

All EQA programme communications, data entry, and reports will be conducted exclusively in the English language. Participants must ensure proficiency in English to fully engage in the programme.

The programme welcomes participation from diverse sectors including:

Clinical Healthcare Laboratories
Academic and Research Institutions
In Vitro Diagnostics (IVD) Manufacturers
Pharmaceutical companies

Minimum participation level 30, maximum participation level 400.

Sample type/distribution:

One lyophilised cell based (cell line or patient) sample is issued twice per annum, plus additional samples e.g. DNA in tris-EDTA, where appropriate. Clinical scenarios are included with trial samples to guide panel/bioinformatic analysis. The trial schedule can be found here: https://www.ukneqasli.co.uk/eqa-pt-programmes/trial-schedules/

Trial duration:

Standardly trials for this programme are live/open for a minimum of 6 weeks. Please note, trials issued/closing in August or December are extended by 1 week.

Subcontracted areas:

DNA extraction from donated patient material and pre-issue and post-closure testing of trial samples is subcontracted for this programme, although the final decision about sample suitability lies with the EQA provider; no other activities in relation to this EQA programme are subcontracted

Updates to the programme for current or upcoming year:

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.

To register for this programme, please click here

References:

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).

Lymphoplasmacytic Lymphoma/Waldenström Macroglobulinaemia (Accredited)

Programme objective:

To assess a laboratory’s ability to accurately detect MYD88 p.Leu265Pro variant status, using molecular methods.

Clinical/scientific background:

The MYD88 p.Leu265Pro (L265P) variant is found in >90% of lymphoplasmacytic lymphoma (LPL) patients, however, it is not specific to LPL, nor required for diagnosis. In a substantial subset of patients with LPL (~95%), the clinical features of disease include the presence of an IgM monoclonal gammopathy, indicative of Waldenstrӧm Macroglobulinaemia (WM).

MYD88 is a signalling protein, involved in the NF-Κß cascade. The presence of the MYD88 p.Leu265Pro (L265P) variant results in constitutive activation of the signalling cascade, promoting cellular survival and oncogenesis. Bruton Tyrosine Kinase (BTK) inhibitors, such as Ibrutinib, have been shown to be effective in the treatment of WM due to inhibition of the NF-Κß cascade downstream of MYD88. Patients without the MYD88 p.Leu265Pro variant have an adverse prognosis and lower response to Ibrutinib, thus testing for the variant is important from a prognostic and therapeutic standpoint¹.

Suitability:

Participation in this External Quality Assessment (EQA) programme is open to laboratories employing any DNA/RNA-based molecular genetic approach for the detection the MYD88 p.Leu265Pro variant.

All EQA programme communications, data entry, and reports will be conducted exclusively in the English language. Participants must ensure proficiency in English to fully engage in the programme.

The programme welcomes participation from diverse sectors including:

Clinical Healthcare Laboratories
Academic and Research Institutions
In Vitro Diagnostics (IVD) Manufacturers
Pharmaceutical companies

Minimum participation level 30, maximum participation level 400.

Sample type/distribution:

Two lyophilised cell line-based samples are issued twice per annum. The trial schedule can be found here: https://www.ukneqasli.co.uk/eqa-pt-programmes/trial-schedules/

Trial duration:

Standardly trials for this programme are live/open for a minimum of 4 weeks. Please note, trials issued/closing in August or December are extended by 1 week.

Subcontracted areas:

Updates to the programme for current or upcoming year:

This programme has now achieved ISO 17043:2010 accreditation. Formal performance monitoring has now been introduced and the number of trial issues will increase from two to three.

To register for this programme, please click here

References:

1. Treon, S. P., Gustine, J., Meid, K. et al. Ibrutinib Monotherapy in Symptomatic, Treatment-Naïve Patients With Waldenström Macroglobulinemia. J Clin Oncol 36(27), 2755-2761 (2018).

Measurable Residual Disease for AML by Molecular Methods (Pilot – Not Accredited)

Programme objective:

Assess laboratories’ ability to accurately detect and quantify measurable residual disease (MRD) using the fusion genes: t(8;21) RUNX1::RUNX1T1, inv(16) CBFB::MYH11, and t(15;17) PML::RARA, canonical genomic variants in exon 11 of the NPM1 gene (NM_002520.7) and internal tandem duplications within the juxta membrane domain of FLT3 (NM_004119.3).

Clinical/scientific background:

MRD analysis is increasingly important in the management of acute myeloid leukaemia (AML) to predict prognosis and guide treatment plans. It is used as a key outcome in clinical trials for new therapies, where it has the potential to accelerate drug assessment and approval. The phenotypic and genetic heterogeneity of acute myeloid leukaemia (AML), with a wide range of biomarkers, makes standardisation of MRD monitoring a challenge in AML. To address this, the European LeukaemiaNet (ELN) MRD working group have developed consensus guidelines to standardise both flow cytometric and molecular genetic assessment of MRD.^1,2,3

Suitability:

Participation in this EQA programme is open to laboratories employing molecular genetic approaches for the identification and quantification of AML MRD targets.

All EQA programme communications, data entry, and reports will be conducted exclusively in the English language. Participants must ensure proficiency in English to fully engage in the programme.

The programme welcomes participation from:

Clinical Healthcare Laboratories
Academic and Research Institutions
In Vitro Diagnostics (IVD) Manufacturers
Pharmaceutical Companies

Sample type/distribution:

Each round features a total of 12 lyophilised cell line based samples; three samples for each marker, two MRD ‘positive’ samples and an MRD ‘negative’ sample. There will be two rounds per annum. Participants are invited to register even if they don’t test all the markers featured in the programme. Registration and result submission can be done on an individual marker basis.

Trial duration:

Trials for this programme are live/open for a minimum of 6 weeks. Please note, trials issued/closing in August or December are extended by 1 week. An automated email is sent 2 days prior to trial closure to any participant that has not yet returned results.

Subcontracted areas:

Pre-issue and post-closure 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.

Updates to the programme for current or upcoming year:

A number of participants have expressed interest in MRD assessment of KMT2A rearrangements, therefore we plan to distribute samples for this marker in upcoming trials.

To register for this programme, please click here

References:

Cloos J, et al, 2026. 2025 update on MRD in acute myeloid leukemia: a consensus document from the ELN-DAVID MRD Working Party. Blood. 147(11):1147-1167. doi: 10.1182/blood.2025031480
Heuser M et al, 2021 Update on MRD in acute myeloid leukemia: a consensus document from the European LeukemiaNet MRD Working Party. Blood. 138(26):2753-2767. doi: 10.1182/blood.2021013626.
Schuurhuis GJ, et al, 2018. Minimal/measurable residual disease in AML: a consensus document from the European LeukemiaNet MRD Working Party. Blood. 131(12):1275-1291. doi: 10.1182/blood-2017-09-801498.

Measurable Residual Disease for Lymphoid Neoplasms by Molecular Methods (Pilot – Not Accredited)

Programme objective:

To assess a laboratory’s ability to identify trackable clonal immunoglobulin (IG) gene rearrangements from a diagnostic sample and subsequently detect and quantify measurable residual disease (MRD) using next generation sequencing (NGS)-based molecular methods.

Clinical/scientific background:

Measurable residual disease testing is a well-established predictor of outcome following treatment across virtually all haematological malignancies. It has become an established surrogate endpoint in clinical trials for new compounds in lymphoid malignancies and is increasingly used to guide standard patient care. Unlike chronic myeloid leukaemia, lymphoid malignancies lack a single pathognomonic genetic marker consistent across all patients. Instead, immunoglobulin gene rearrangements offer an ideal patient-specific target: each neoplastic lymphoid cell harbours identically rearranged heavy and light chain IG genes generated through somatic V(D)J recombination, producing a unique clonal sequence. NGS-based approaches allow the sensitive identification and quantification of these clonal IG rearrangements, with reported limits of detection in the range of 10⁻⁴ to 10⁻⁷ (1-3), and applicability to approximately 90% of patients. Whilst EQA/PT programmes are established for allele-specific oligonucleotide (ASO)-PCR and multi-parameter flow cytometry (MPFC) approaches to MRD detection, EQA provision for NGS-based IG MRD quantification is not yet established. This programme addresses that gap. In addition to assessing qualitative and quantitative performance, the programme reviews reporting practice including nomenclature, bioinformatics software and version reporting, MRD units, and limit of detection/quantification (LoD/LoQ) definitions, with the aim of informing harmonisation across the field.

Suitability:

Participation in this EQA programme is open to laboratories employing NGS-based molecular methods for the identification and quantification of clonal IG gene rearrangements in a measurable residual disease setting.

All EQA programme communications, data entry, and reports will be conducted exclusively in the English language. Participants must ensure proficiency in English to fully engage in the programme.

The programme welcomes participation from:

Clinical Healthcare Laboratories
Academic and Research Institutions
In Vitro Diagnostics (IVD) Manufacturers
Pharmaceutical Companies

Sample type/distribution:

Four lyophilised cell-based samples are issued per round. One diagnostic sample is provided to facilitate the identification of a dominant clonal IG gene rearrangement sequence to be used as an MRD target. Standardly, three follow-up samples are then issued for detection and quantification of the target rearrangement(s): two MRD-positive samples at different MRD levels, and one MRD-negative sample. Two rounds are issued per annum. The trial schedule can be found here: https://www.ukneqasli.co.uk/eqa-pt-programmes/trial-schedules/

Trial duration:

Subcontracted areas:

Updates to the programme for current or upcoming year:

Improvements to the data entry form are planned prior to the next trial distribution to improve user experience.

To register for this programme, please click here

References:

Wierda WG, et al. Measurable residual disease in chronic lymphocytic leukemia: expert review and consensus recommendations. Leukemia 2021;35:3059–3072.

Kumar S, et al. International Myeloma Working Group consensus criteria for response and minimal residual disease assessment in multiple myeloma. Lancet Oncol 2016;17:e328–e346.

Short NJ, et al. Recommendations for the assessment and management of measurable residual disease in adults with acute lymphoblastic leukemia: a consensus of North American experts. Am J Hematol 2019;94:257–265.

Myeloid Gene Panels (Pilot – Not Accredited)

Programme objective:

To assess a laboratory’s ability to accurately determine the genetic status of myeloid neoplasms using high throughput sequencing methods.

Clinical/scientific background:

Myeloid neoplasms represent a heterogenous group of disorders with many overlapping biological and genetic features. Genomic data is increasingly important to distinguish and classify these disorders. Its application is becoming deeply embedded in all aspects of patient management; providing valuable diagnostic, treatment and prognostic information. Further, patient genomic data can facilitate accessibility to clinical trials and offer markers for measurable residual disease testing post treatment. The increasing importance of genomic data has been acknowledged in both the recent WHO (5^th edition) and ICC guidelines:

Khoury, J.D., Solary, E., Abla, O. et al. The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours: Myeloid and Histiocytic/Dendritic Neoplasms. Leukemia 36, 1703–1719 (2022).

Arber, D.A. et al. International Consensus Classification of Myeloid Neoplasms and Acute Leukemias: integrating morphologic, clinical, and genomic data. Blood 140, 1200-1228 (2022).

High throughput sequencing methods have evolved to allow the development of large myeloid gene panels necessitating external quality assessment (EQA)/proficiency testing (PT) in this area. Initially this programme was launched as an acute myeloid leukaemia specific programme, extending to include myelodysplastic syndromes in 2019. However, from 2022/23 the programme expanded further to encompass a broader range of myeloid neoplasms (e.g. myeloproliferative neoplasms, juvenile myelomonocytic leukaemia, chronic neutrophilic leukaemia and systemic mastocytosis – subject to sample material availability) to reflect the increased application of NGS gene panel testing.

Suitability:

All EQA programme communications, data entry, and reports will be conducted exclusively in the English language. Participants must ensure proficiency in English to fully engage in the programme.

The programme welcomes participation from diverse sectors including;

Clinical Healthcare Laboratories
Academic and Research Institutions
In Vitro Diagnostics (IVD) Manufacturers
Pharmaceutical companies

Minimum participation level 30 laboratories.

Sample type/distribution:

One lyophilised cell based (cell line or patient material) or DNA in tris-EDTA sample is issued twice per annum. A clinical scenario is included with trial sample to guide panel/bioinformatic analysis. The trial schedule can be found here: https://www.ukneqasli.co.uk/eqa-pt-programmes/trial-schedules/

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 panel and report any clinically significant intragenic and/or regulatory element changes such as a nucleotide substitution, small insertion, small deletion or small duplication event(s). Participants will not be requested to report larger changes affecting genome architecture or copy number changes (>50 kb).

Trial duration:

Typically, trials for this programme are live/open for a minimum of 6 weeks. Please note that trials issued/closing in August or December are extended by 1 week.

Subcontracted areas:

Pre-issue and post-closure testing of samples for this programme is subcontracted, although the final decision about sample suitability lies with the EQA provider. DNA extraction from patient material may also be subcontracted. No other activities in relation to this EQA programme are subcontracted.

Updates to the programme for current or upcoming year:

One trial distribution per annum will focus on summarising the variants detected by participants (including methodological aspects and nomenclature) and the other will additionally provide educational elements related to variant interpretation/classification. It may be prudent for UK NEQAS LI to issue an interim/preliminary report, followed by an educational addendum to form the finalised trial report.

We will be reviewing data entry and reporting procedures for this programme during 2026-2027, this will include a consultation with stakeholders to collate feedback to inform the future direction and format of the scheme.

We acknowledge best practice in somatic variant interpretation is an evolving topic. However, for further details regarding the classification terminology currently utilised by this programme please refer to Li M.M. et al. Standards and Guidelines for the interpretation and reporting of sequence variants in cancer. J Mol Diagn. 19, 4-23 (2017).

To register for this programme, please click here

Myeloproliferative Neoplasms Diagnostic Testing**

Programme objective:

To assess a laboratory’s ability to accurately conduct molecular genetic testing for the four core markers associated with myeloproliferative neoplasms (MPNs): JAK2 p.(Val617Phe), and clinically significant variants in exon 12 of JAK2, exon 9 of CALR and exon 10 of MPL.

Clinical/scientific background:

Molecular genetic screening of the JAK2, CALR and MPL genes plays a crucial role in the diagnosis, classification, and management of MPNs. It will detect a clinically significant variant in the vast majority of patients with a classic, BCR::ABL1-negative, MPN: Essential Thrombocythaemia (ET), Polycythaemia Vera (PV) or Primary Myelofibrosis (PMF). The JAK2 p.(Val617Phe) variant is observed in >96% of PV, and approximately half of all ET and PMF cases. Clinically significant variants in exon 12 of the JAK2 gene are observed in most remaining PV patients. Variants in exon 9 of the CALR gene form the second most frequent MPN driver mutation type, observed in approaching one third of ET and PMF patients, whilst variants in exon 10 of the MPL gene account for 3-11% of ET and 6-9% of PMF¹. Thus, appropriate assays targeting the four core MPN variant types, JAK2 p.(Val617Phe), JAK2 exon 12, CALR exon 9 and MPL exon 10, will identify adriver mutation in almost all PV patients and 85-90% of patients with ET and PMF¹.

Suitability:

Participation in this External Quality Assessment (EQA) programme is open to laboratories employing any DNA-based molecular genetic approach for the detection of JAK2 p.(Val617Phe) and/or clinically significant variants in JAK2 exon 12, CALR exon 9 and MPL exon 10. Please note that testing for all four markers is not mandatory if such testing is not offered by the participating laboratory; participants are only expected to return results for assays they provide. Participants are given the opportunity to inform UK NEQAS LI of their test repertoire to ensure fair and appropriate performance monitoring. Participants should submit a qualitative result for each of the tests their laboratory offers; for positive results, there is the option to submit a quantitative result (variant allele burden), however this is neither obligatory, nor currently subject to performance monitoring. Please note that RNA-based approaches are not advocated in this programme since the use of RNA/cDNA templates adds additional unnecessary complexity, and quantitative results cannot be directly compared to the wealth of published data from DNA evaluation²; as such RNA will not be routinely provided.

All EQA programme communications, data entry, and reports will be conducted exclusively in the English language. Participants must ensure proficiency in English to fully engage in the programme.

The programme welcomes participation from diverse sectors including:

Clinical Healthcare Laboratories
Academic and Research Institutions
In Vitro Diagnostics (IVD) Manufacturers
Pharmaceutical companies

Minimum participation level 30, maximum participation level: 300

Sample type/distribution:

Four trials are issued per annum, each featuring two samples (eight samples per year). Samples will either be lyophilised cell line derived material or genomic DNA extracted from patient samples; full instructions will be given at trial issue. Subject to their test repertoire, participants are expected to test seven of the samples for each of the four core MPN markers: JAK2 p.(Val617Phe) and clinically significant variants in JAK2 exon 12, CALR exon 9 and MPL exon 10. The eighth sample will be identified as a post treatment / post hematopoietic stem cell transplant follow-up sample, requiring sensitive testing for JAK2 p.(Val617Phe) only. The trial schedule can be found here: https://www.ukneqasli.co.uk/eqa-pt-programmes/trial-schedules/

Trial duration:

Subcontracted areas:

DNA extraction from donated patient material and pre-issue and post-closure testing of trial samples is subcontracted for this programme, although the final decision about sample suitability lies with the EQA provider; no other activities in relation to this EQA programme are subcontracted.

Updates to the programme for current or upcoming year:

From April 2024, the MPN Diagnostic Testing programme incorporated the now obsolete JAK2 p.Val617Phe (V617F) Mutation Status (Accredited) programme. All key features of the JAK2 p.Val617Phe (V617F) Mutation Status programme are now provided within the MPN Diagnostic Testing programme: UKAS accredited performance monitoring for qualitative JAK2 p.(Val617Phe) testing across all eight samples, as well as provision of z scores for optional variant quantification in JAK2 p.(Val617Phe) positive samples, as applicable. The JAK2 p.Val617Phe (V617F) Mutation Status programme is no longer available as a stand-alone programme.

UK NEQAS LI are currently seeking full accreditation of the MPN Diagnostic Testing programme. Once achieved, performance monitoring for qualitative testing of exon 12 of JAK2, exon 9 of CALR and exon 10 of MPL will be provided. Optional performance monitoring for quantification of the JAK2 p.(Val617Phe) variant will also be available for laboratories offering this service.

To register for this programme, please click here

References:

1. Cross, NCP et al. The use of genetic tests to diagnose and manage patients with myeloproliferative and myeloproliferative/myelodysplastic neoplasms, and related disorders. Br J Haematol 195(3):338-351 (2021).

2. Cross, NCP. Personal communication (2025).

NPM1 Mutation Status (Accredited)

Programme objective:

To assess a laboratory’s ability to accurately detect exon 11 NPM1 variant (mutation) status, using molecular methods.

Clinical/scientific background:

Nucleophosmin (NPM1) is a chaperone protein that shuttles rapidly between the nucleus and the cytoplasm but predominately resides in the nucleolus. In approximately 35% of adult AML cases, variants in exon 11 (historically exon 12) of NPM1 are detected, with over 55 insertion/duplication variants described to date. The most common variant, Type A, a tandem duplication of TCTG is the most prevalent, accounting for 80% of mutated NPM1 cases. Pathophysiologically, exon 11 insertion/duplication variants result in the aberrant localisation of nucleophosmin in the cytoplasm. NPM1 variant status is a prognostic marker in AML, especially useful in cytogenetically normal cases.

Suitability:

Participation in this External Quality Assessment (EQA) programme is open to laboratories employing any DNA/RNA-based molecular genetic approach for the detection of exon 11 NPM1 type A duplications.

All EQA programme communications, data entry, and reports will be conducted exclusively in the English language. Participants must ensure proficiency in English to fully engage in the programme.

The programme welcomes participation from diverse sectors including:

Clinical Healthcare Laboratories
Academic and Research Institutions
In Vitro Diagnostics (IVD) Manufacturers
Pharmaceutical companies

Minimum participation level 30, maximum participation level 400.

Sample type/distribution:

Two lyophilised cell line-based samples are issued three times per annum plus additional samples e.g. low level samples. Trial schedule can be found here: https://www.ukneqasli.co.uk/eqa-pt-programmes/trial-schedules/

Trial duration:

Subcontracted areas:

Updates to the programme for current or upcoming year:

We continue to issue one educational sample per annum, formulated from whole genome amplified, patient DNA for non-type A NPM1 insertion/duplication analysis.

To register for this programme, please click here

Paediatric Acute Leukaemia Translocations (Accredited)

Programme objective:

To assess a laboratory’s ability to accurately detect the t(12;21) (TEL::AML1 or ETV6::RUNX1), t(4;11) (KMT2A::AFF1 or MLL::AF4) and t(1;19) (E2A::PBX1 or TCF3::PBX1) rearrangement status, using molecular methods

Clinical/scientific background:

The WHO classification of haematopoietic tumours uses genetic markers to aid in the classification of Precursor Lymphoid Neoplasms. The identification of the t(12;21) (TEL::AML1 or ETV6::RUNX1), t(4;11) (KMT2A::AFF1 or MLL::AF4) and t(1;19) (E2A::PBX1 or TCF3::PBX1) are useful diagnostic tools and also have prognostic significance that allow for therapeutic stratification.

Suitability:

Participation in this External Quality Assessment (EQA) programme is open to laboratories employing any DNA/RNA-based molecular genetic approach for the detection of the t(12;21) (TEL::AML1 or ETV6::RUNX1), t(4;11) (KMT2A::AFF1 or MLL::AF4) and t(1;19) (E2A::PBX1 or TCF3::PBX1) rearrangements. It is not mandatory to submit results for all rearrangements included in the scope of this programme; participants can submit a subset of results according to their laboratory test repertoire.

All EQA programme communications, data entry, and reports will be conducted exclusively in the English language. Participants must ensure proficiency in English to fully engage in the programme.

The programme welcomes participation from diverse sectors including:

Clinical Healthcare Laboratories
Academic and Research Institutions
In Vitro Diagnostics (IVD) Manufacturers
Pharmaceutical companies

Minimum participation level 30, maximum participation level 400.

Sample type/distribution:

Two lyophilised cell line-based samples are issued three times per annum. Trial schedule can be found here: https://www.ukneqasli.co.uk/eqa-pt-programmes/trial-schedules/

Trial duration:

Subcontracted areas:

Updates to the programme for current or upcoming year:

No updates to report.

To register for this programme, please click here

Post-Stem Cell Transplant Chimerism Monitoring (Accredited)

Programme objective:

To assess a laboratory’s ability to accurately quantify percentage donor chimerism post haematopoietic stem cell transplantation.

Clinical/scientific background:

Chimerism analysis is an integral tool for the monitoring of donor engraftment following haematopoietic stem cell transplantation. It enables early detection of relapse/loss of engraftment and allows pre-emptive therapeutic intervention. Quantitative molecular analysis of donor and recipient derived cells utilises polymorphic markers, usually Short Tandem Repeats (STRs), small insertions and deletions (InDels) or Single Nucleotide Polymorphisms (SNPs), analysed via capillary electrophoresis, real-time quantitative PCR (qPCR), digital PCR (dPCR) or next generation sequencing (NGS) technologies.

Suitability:

Participation in this External Quality Assessment (EQA) programme is open to laboratories employing any DNA-based molecular genetic approach for the assessment of whole blood chimerism following haematopoietic stem cell transplant.

All EQA programme communications, data entry, and reports will be conducted exclusively in the English language. Participants must ensure proficiency in English to fully engage in the programme.

The programme welcomes participation from diverse sectors including:

Clinical Healthcare Laboratories
Academic and Research Institutions
In Vitro Diagnostics (IVD) Manufacturers
Pharmaceutical companies

Minimum participation level 30, maximum participation level: 200

Sample type/distribution:

Five trials are issued per annum, each consisting of four peripheral blood samples (1x donor, 1x recipient and 2x post SCT in each trial issue). This is to ensure adherence to the European Federation of Immunogenetics (EFI) Standards for Histocompatibility & Immunogenetics Testing, v8.1 (01.01.2024), in which standard D1.5.1.11 mandates ‘10 [EQA] tests of different donor/recipient mixtures in the range 0% – 100%, excluding the reference donor and recipient samples’ annually. Participants are asked to submit a value for % donor chimerism, together with details of the methodology used. The trial schedule can be found here: https://www.ukneqasli.co.uk/eqa-pt-programmes/trial-schedules/

Trial duration:

Subcontracted areas:

Post-closure 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.

Updates to the programme for current or upcoming year:

N/A

To register for this programme, please click here

Molecular Haemato-Oncology Programmes

***New for 2026-2027***

Extending Accreditation for the Myeloproliferative Neoplasms Diagnostic Testing programme

Pilot Liquid Biopsy in DLBCL EQA Study

Minor Programme Changes

Webinar Plans

BCR::ABL1 and AML Translocation Identification (Accredited)

Programme objective:

Clinical/scientific background:

Suitability:

Sample type/distribution:

Trial duration:

Subcontracted areas:

Updates to the programme for current or upcoming year:

References:

Related Documents

BCR::ABL1 Kinase Domain Variant (Mutation) Status (Accredited)

Programme objective:

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Related Documents

BCR::ABL1 Major Quantification (Accredited)

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BCR::ABL1 Minor Quantification (Accredited)

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BRAF p.Val600Glu (V600E) Mutation Status for Hairy Cell Leukaemia (Accredited)

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Related Documents

Diffuse large B cell lymphoma liquid biopsy study

FLT3 Mutation Status (Accredited)

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IG/TCR Clonality Status (Accredited)

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KIT p.Asp816Val (D816V) Mutation Status for Mast Cell Disease (Accredited)

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New for 2026-2027