New EQA programme will support quality, harmonisation and laboratory accreditation for the growing field of DNA methylation-based episignature testing
Salford, United Kingdom, 29 September, 2026 – EMQN CIC and EpiSign today announced a new collaboration to develop and deliver an international External Quality Assessment (EQA) scheme for DNA methylation-based epigenetic signature (episignature) testing, a transformative technology that is increasingly being adopted for the diagnosis and characterisation of rare genetic and epigenetic disorders.
The new EQA programme will provide independent assessment, external benchmarking and educational feedback for laboratories performing episignature testing. It will evaluate both the technical generation of methylation data and the clinical interpretation of episignature results, helping laboratories demonstrate quality, consistency and compliance with international accreditation standards.
Episignature testing is an important emerging diagnostic tool within rare disease medicine, providing functional evidence to support genomic variant interpretation, improve diagnostic yield and assist with the evaluation of complex genetic disorders. The technology continues to gain international recognition and is now being adopted by a growing number of clinical laboratories worldwide.
Under the collaboration, EMQN will contribute its internationally recognised expertise in the design, delivery and assessment of EQA programmes, while EpiSign will provide specialist scientific leadership and technical expertise in episignature testing. Together, the organisations aim to establish a globally accessible quality framework that supports laboratories as the field continues to expand.
Dr Simon Patton, Chief Executive Officer of EMQN, said:
“The clinical adoption of epigenetic signature testing has accelerated remarkably over recent years and is delivering meaningful benefits for patients with rare and often difficult-to-diagnose conditions. As with any emerging diagnostic technology, ensuring quality, consistency and confidence across laboratories is essential. We are delighted to collaborate with EpiSign to establish what we believe will be the first international EQA programme dedicated to episignature testing, providing laboratories with independent assessment, benchmarking and educational support as this field continues to mature.”
Dr. Bekim Sadikovic, Chief Scientific Officer, EpiSign, said:
“Episignature testing has become an increasingly important component of rare disease diagnostics, supporting clinical decision-making and the interpretation of genomic findings. As adoption expands globally, there is a clear need for formal external quality assessment to ensure harmonised testing and reporting standards. We are pleased to partner with EMQN, whose long-standing expertise in proficiency testing and genetic quality assurance makes them an ideal organisation to deliver this programme to the international community.”
The EQA scheme is expected to assess both laboratory and interpretative performance through the use of DNA samples and standardised analytical datasets. Participants will receive detailed feedback designed to support continual improvement, harmonisation of practice and accreditation requirements.
The collaboration also reflects the increasing convergence of genomic and epigenomic testing. As emerging technologies begin to integrate array, sequence and methylation analysis within unified diagnostic workflows, the need for robust quality frameworks will become even more important. The new programme is intended to provide a foundation that can evolve alongside future developments in genomic medicine.
About EMQN
EMQN CIC is a science lead company that exists to strengthen global trust in genomic and laboratory testing, ensuring every patient receives results they can rely on. For laboratories committed to delivering accurate, high quality diagnostics, EMQN provides independent performance evaluation, global benchmarking, and expert guidance that drives continuous improvement. By combining rigorous UKAS-accredited External Quality Assessment (EQA) with internationally recognised expertise and collaborative learning, EMQN empowers laboratories to raise standards, reduce errors, and deliver better outcomes for patients.
About EpiSign
EpiSign is a pioneering DNA methylation-based episignature analysis platform that supports the detection and characterisation of a wide range of rare genetic and epigenetic disorders. EpiSign technology is used by clinical laboratories internationally as part of laboratory-developed and validated testing workflows. Through ongoing scientific innovation and clinical implementation, EpiSign helps clinicians and laboratories improve the evaluation of complex and previously unresolved rare disease cases.
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