NGS Reference Materials Market (2026-2036)

The growth of this market is mainly driven by the expansion of clinical NGS testing in oncology, inherited disease, and reproductive health, each of which requires validated reference materials for assay development, verification, and ongoing quality control; accreditation and proficiency testing requirements that oblige laboratories to monitor assay performance continuously; the growth of liquid biopsy and molecular residual disease testing, which demands reference materials at very low variant allele frequencies; and the increasing number of laboratories bringing NGS testing in house. In addition, the development of standardized somatic reference materials through public-private collaborations, the availability of certified whole-genome reference materials and benchmark variant call sets, the growth of in vitro diagnostic-labeled reference standards, and the expansion of clinical sequencing capacity in Asia-Pacific are further supporting the growth of this market.

The NGS Reference Materials Market, also referred to as the NGS controls and reference standards market, sequencing quality control materials market, or genomic reference standards market, comprises the well-characterized biological and synthetic materials that laboratories and diagnostic manufacturers use to develop, validate, verify, and monitor the performance of next-generation sequencing assays. The market includes cell line-derived reference materials, including formalin-fixed paraffin-embedded and genomic DNA formats; synthetic and engineered reference materials, including plasmid, oligonucleotide, and in vitro transcribed RNA constructs; whole-genome and certified reference materials supplied by metrology institutes; contrived materials in matrix, such as reference materials formulated in plasma for liquid biopsy and in blood or saliva for germline testing; RNA and fusion reference materials; microbial and metagenomic reference materials; and the benchmark variant call sets and data files supplied with them. The market covers materials for multiplex panels and for single-variant monitoring, supplied as research-use-only or in vitro diagnostic-labeled products. The market ecosystem extends from reference material developers, cell line engineering companies, synthetic biology providers, metrology institutes, and standards consortia to clinical and reference laboratories, in vitro diagnostic manufacturers, pharmaceutical and biotechnology companies, contract research organizations, and proficiency testing providers.

Reference materials solve a problem that is intrinsic to sequencing. An NGS assay reports the variants it detects, but without a sample of known composition a laboratory cannot establish what the assay fails to detect, what it reports in error, or how its performance changes over time. Reference materials provide that known truth. They allow a laboratory to measure sensitivity, specificity, limit of detection, and reproducibility during validation, to verify performance after a change in reagent lot, instrument, or pipeline, and to monitor for drift during routine operation. Because they are consumed in each validation and each quality control run, they generate recurring demand that scales with the number of assays in use and the volume of testing performed.

Oncology is the largest application. Comprehensive genomic profiling panels interrogate hundreds of genes and report single nucleotide variants, insertions and deletions, copy number changes, fusions, and signatures such as microsatellite instability and tumor mutational burden, and each class of variant must be validated separately. In the second quarter of 2026, Tempus AI, Inc. reported 31% growth in oncology testing volume and 9,000 molecular residual disease tests, illustrating the growth of NGS oncology and liquid biopsy testing that depends on well-characterized reference materials for assay validation and performance monitoring. Multiplex reference materials containing many characterized variants at defined allele frequencies allow a laboratory to validate a broad panel from a small number of samples, which is why they have become the standard approach in clinical oncology sequencing.

Standardization of oncology reference materials has advanced through collaboration between industry, regulators, and standards bodies. The Somatic Reference Samples Initiative of the Medical Device Innovation Consortium (MDIC), a multi-year public-private collaboration, worked with Revvity to engineer the Mimix Geni Somatic Cancer Reference Standards, which add seven clinically relevant cancer mutations selected by an expert steering committee to the extensively characterized Genome in a Bottle cell line GM24385, and include both DNA and RNA to help laboratories and manufacturers assess the sensitivity, specificity, and reproducibility of NGS oncology assays. Materials built on a consensus-characterized background with agreed variants and shared interlaboratory data allow results to be compared between laboratories and between assays, which is a prerequisite for the wider acceptance of sequencing results in clinical and regulatory decisions.

Metrology institutes supply the foundation on which commercial materials rest. The Genome in a Bottle Consortium, hosted by the U.S. National Institute of Standards and Technology (NIST), supplies the certified human genome reference materials, including RM 8391, RM 8392, and RM 8393, and the associated benchmark variant call sets, that laboratories and manufacturers use to measure the accuracy of sequencing platforms, chemistries, and bioinformatics pipelines. Commercial providers frequently build their materials on Genome in a Bottle cell lines precisely because the background genome is already characterized to a high standard, which allows any variant that the provider engineers in to be distinguished confidently from the native sequence.

The regulatory environment shapes demand in both directions. In the U.S., the Food and Drug Administration (FDA) final rule on laboratory developed tests was vacated by the U.S. District Court for the Eastern District of Texas in March 2025, and in August 2025 the FDA signaled its intention to rescind the rule, leaving laboratory developed tests to be validated primarily under Clinical Laboratory Improvement Amendments (CLIA) requirements and accreditation programs rather than FDA premarket review. With laboratory developed tests validated primarily under CLIA and accreditation programs, the burden of demonstrating analytical validity rests with the laboratory, which sustains demand for reference materials used in validation and ongoing quality control. In the European Union, the In Vitro Diagnostic Regulation continues to phase in, with manufacturers of Class C self-declared devices required to sign a written agreement with a notified body by September 26, 2026 in order to continue placing legacy devices on the market until the end of 2028, and extended transition timelines running to the end of 2027, 2028, and 2029 for devices that meet the conditions set in the Regulation. In vitro diagnostic manufacturers in Europe require reference materials with documented characterization and traceability to support technical documentation, which is driving demand for in vitro diagnostic-labeled standards such as those introduced by Revvity.

Growth in sequencing capacity underpins the market. In the second quarter of 2026, Illumina, Inc. reported sequencing consumables revenue of USD 775 million, up 5% year over year, and sequencing instrument revenue of USD 125 million, up 31%, reflecting the continued expansion of the installed base and test volumes that require reference materials for validation and ongoing quality control. Each new instrument placed, each new assay validated, and each laboratory bringing sequencing in house creates a requirement for reference materials, and the trend toward decentralization of NGS from large reference laboratories to hospital and regional laboratories increases the number of organizations that must each perform their own validation.

The market includes reference material specialists and diagnostics companies such as Revvity through its Horizon Discovery business, LGC through LGC Clinical Diagnostics and the SeraCare Seraseq portfolio, Thermo Fisher Scientific through its AcroMetrix portfolio, Twist Bioscience, Maine Molecular Quality Controls, Zymo Research for microbial and metagenomic materials, ATCC, Bio-Rad Laboratories, and Agilent Technologies. These companies compete on the breadth and clinical relevance of variants included, the accuracy and documentation of characterization, performance at low allele frequencies, commutability with patient samples, lot-to-lot consistency, matrix and format options, regulatory grade, and the quality of the accompanying data files and technical support.

At the same time, the market faces challenges, including the difficulty of producing materials that behave like real patient samples, particularly for formalin-fixed tissue and cell-free DNA, the cost and complexity of characterizing materials to a defensible standard, the absence of reference materials for many variant classes and for novel modalities, the practice among some laboratories of using residual patient samples instead of commercial materials, and price sensitivity among smaller laboratories. As a result, companies that combine clinically relevant and well-documented content, commutable formats, performance at low allele frequency, regulatory-grade manufacturing, and strong interpretive support are expected to capture the largest share of growth over the forecast period.