GeneDx Expands Diagnostic Leadership with Long-Read Genome Sequencing, Advancing Rare Disease Diagnosis

GeneDx (Nasdaq: WGS) plans to expand its genome testing portfolio with long-read whole genome sequencing for rare disease diagnosis.

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GeneDx combines clinical expertise with a phenotype-driven approach to solve complex genetic cases and deliver answers sooner

GAITHERSBURG, Md.--(BUSINESS WIRE)-- GeneDx (Nasdaq: WGS), the leader in rare disease diagnosis and improving health through the power of genomic data, today announced plans to enhance its genome testing portfolio with long-read whole genome sequencing (lrWGS).

Long-read sequencing analyzes longer stretches of DNA to identify complex genetic variation, including certain structural variants and repeat expansions that can go undetected by traditional short-read sequencing. With years of published research¹ and collaborations with leading technology partners, GeneDx is uniquely positioned to bring long-read sequencing into clinical practice, combining advanced sequencing of genomic data, rich phenotypic data, and deep clinical expertise to deliver meaningful answers for patients.

Leveraging insights from GeneDx Infinity™ and decades of clinical interpretation, GeneDx will identify where long-read sequencing can deliver the greatest diagnostic value and offer lrWGS upfront for eligible patients. This targeted, phenotype-driven approach aims to reduce sequential testing, close diagnostic gaps and accelerate diagnosis.

“Long-read sequencing is providing us with substantially more powerful insights into the human genome than previously possible. We are especially interested in how this technology helps us to understand the cause of a patient’s rare disease when their genome is from a population that has been under-studied,” said John Greally, D.Med., Ph.D., chief of genomics, and professor of genetics and pediatrics at Albert Einstein College of Medicine, clinical geneticist at the Children's Hospital at Montefiore (CHAM), and co-director of the NY Center for Rare Diseases at Montefiore. “The future for rare disease diagnostics combines long-read sequencing with enhanced clinical information describing the patient, adding the expertise of clinicians to the solution, finally providing answers for patients and families living with these conditions.”

“Every advancement in genomic medicine should bring patients closer to answers,” said Linda Genen, MD, MPH, Chief Medical Officer, GeneDx. “Long-read sequencing creates new opportunities to uncover complex genetic variation, but the true value lies in how those findings are interpreted and applied. By combining advanced sequencing with our deep genomic data and clinical expertise, we aim to equip clinicians with clearer insights to navigate complex cases, make more informed diagnostic decisions and get patients closer to answers.”

The early access program will be available by year-end and is part of GeneDx's continued focus on genome innovation to expand diagnostic capabilities and deliver more answers to more patients. To learn more, contact our team at genedx.com/contact-us.

About GeneDx

GeneDx’s (Nasdaq: WGS) mission is to empower everyone to live their healthiest life through genomics. GeneDx combines unmatched clinical expertise, advanced technology, and the power of GeneDx Infinity™ – the world’s largest rare disease genomic dataset. This unparalleled foundation powers GeneDx’s ExomeDx™ and GenomeDx^® tests – ranked #1 by expert geneticists and granted FDA Breakthrough Device designation – enabling clinicians to deliver precise, fast, and actionable diagnoses. GeneDx Infinity also fuels discovery for biopharma, with the most powerful AI-driven genomic intelligence. A genomics pioneer over the last 25 years, diagnosing more than 4,800 genetic diseases and publishing more than 1,100 research publications, GeneDx is building the network that will drive the future of genomic precision medicine. For more information, visit genedx.com and connect with us on LinkedIn, Facebook, and Instagram.

Forward Looking Statements

This press release may contain “forward-looking statements” within the meaning of Section 21E of the Securities Exchange Act of 1934, as amended, and the U.S. Private Securities Litigation Reform Act of 1995. These forward-looking statements generally are identified by the words “believe,” “project,” “expect,” “anticipate,” “estimate,” “intend,” “strategy,” “future,” “opportunity,” “plan,” “may,” “should,” “will,” “would,” “will be,” “will continue,” “will likely result,” and similar expressions. Forward-looking statements are predictions, projections and other statements about future events that are based on current expectations and assumptions and, as a result, are subject to risks and uncertainties. Many factors could cause actual future events to differ materially from the forward-looking statements in this press release, including but not limited to: (i) our ability to successfully launch new product offerings, (ii) the risk of downturns and a changing regulatory landscape in the highly competitive healthcare industry, (iii) the size and growth of the market in which we operate, and (iv) future expansion of insurance coverage for exome and genome testing. The foregoing list of factors is not exhaustive. A further list and description of risks, uncertainties and other matters can be found in the “Risk Factors” section of our Annual Report on Form 10-K for the fiscal year ended December 31, 2025 and our Quarterly Report on Form 10-Q for the fiscal quarter ended March 31, 2026, filed with the SEC on May 4, 2026, our Quarterly Report on Form 10-Q for the fiscal quarter ended June 30, 2026, filed with the SEC on August 3, 2026 and other documents filed by us from time to time with the SEC. These filings identify and address other important risks and uncertainties that could cause actual events and results to differ materially from those contained in the forward-looking statements. Forward-looking statements speak only as of the date they are made. Readers are cautioned not to put undue reliance on forward-looking statements, and we assume no obligation and do not intend to update or revise these forward-looking statements, whether as a result of new information, future events, or otherwise. We do not give any assurance that we will achieve our expectations.

Devaney JM, Chong JX, Lopes PC, et al. Sensitivity of HiFi long-read genome sequencing for difficult-to-detect pathogenic variants when applied to real-world clinical laboratory samples. Am J Hum Genet. 2026 Apr27:S0002-9297(26)00151-5.

 

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Investors@GeneDx.com
Press@GeneDx.com

Source: GeneDx

Key Terms

long-read whole genome sequencing technical

Long-read whole genome sequencing is a method that reads very long stretches of an organism’s DNA end-to-end, rather than piecing together many short snippets, producing a more complete and clearer map of the entire genetic code. Investors care because it can reveal complex or previously hidden genetic changes that improve diagnostics, drug target discovery and clinical decision-making, creating commercial opportunities for companies that develop the technology or use it in healthcare.

structural variants medical

Structural variants are large-scale changes in an organism’s DNA—such as missing, extra, flipped, or rearranged chunks of genetic material—that are like tearing out, duplicating, or reshuffling chapters in a book. Investors should care because these changes can drive or explain diseases, alter how well diagnostics and therapies work, and shift the commercial and regulatory outlook for drugs, tests, and gene-based treatments.

repeat expansions medical

Repeat expansions are mutations where a short piece of DNA is copied too many times in a row, like a word in a sentence being repeated so often it breaks the meaning. These runaway repeats can disrupt how a gene works and cause inherited diseases. For investors, repeat expansions matter because they define clear diagnostic tests, drug targets, and patient populations and therefore influence the value and risk of therapies, diagnostics, and regulatory approval paths.

fda breakthrough device designation regulatory

A FDA Breakthrough Device Designation is a U.S. regulatory status that gives certain medical devices faster and more flexible review because they may offer more effective treatment or diagnosis for unmet medical needs. Think of it as a “fast lane” through the regulatory process that can shorten development time and reduce regulatory uncertainty, which matters to investors because it can accelerate potential revenue, lower time-to-market risk, and make a product more attractive—while not guaranteeing final approval or commercial success.