Study Shows that OGM Plays an Important Role in Efficient Diagnosis of FSHD

Nov 30, 2023

SAN DIEGO, Nov. 30, 2023 (GLOBE NEWSWIRE) -- Bionano Laboratories today announced the publication by scientists at Revvity Omics (formerly Perkin Elmer Genomics), Leiden University Medical Centre, Bombay Hospital, and UT Dallas, of the largest peer-reviewed study to date on the use of optical genome mapping (OGM) to diagnose facioscapulohumeral muscular dystrophy (FSHD).

The publication describes the evaluation of an OGM-based laboratory developed test (LDT) including the assessment of the accuracy and precision of the OGM test against the prior standard, Southern blot analysis by gel electrophoresis. The study authors assessed the yield of OGM for diagnosing FSHD1 and the ability of next generation sequencing (NGS) to be used as a reflex test to identify FSHD2. The study, which included 547 cases with a clinical suspicion of FSHD, used an algorithm that utilized OGM to identify the FSHD haplotype and quantitate the number of D4Z4 repeats found on chromosome 4. Researchers used the NGS LDT to identify sequence variants, using NxClinical software to detect copy number variants in the SMCHD1 gene to diagnose cases with FSHD2. The authors noted that, when compared to other methods, OGM has the advantage of being able to identify mosaicism and to detect repeat sizing on 4q and 10q together with haplotyping in a single run.

Key findings:

  • Compared to Southern blot, the OGM LDT was 100% accurate and precise
  • The OGM LDT identified 56% of cases positive for FSHD1 (308 out of 547 samples)
  • 252/547 cases were referred for concurrent testing for FSHD1 and FSHD2
  • Sequencing identified FSHD2 in 3.6% of cases (9 out of 252 samples)
  • The OGM LDT detected mosaic alleles with at least one contracted 4qA allele in 3% of samples positive for FSHD1 (9 out of 308 samples)
  • The overall diagnostic yield of OGM and NGS combined was 58% (317 out of 547 samples)

“Bionano Laboratories has developed a powerful menu of OGM-based LDTs, including one LDT for FSHD1 diagnosis. We are pleased to see this prestigious group of researchers’ findings from the largest FSHD study to date utilizing OGM. Using the study’s algorithm, researchers may be able to diagnose most cases of FSHD, underscoring OGM’s potential to contribute to diagnosis of the disorder, which may lead to better disease management and outcomes,” commented Justin Leighton, vice president of laboratory business at Bionano Laboratories.

The publication can be viewed here.

About Bionano Laboratories:

Bionano Laboratories provides access to genetic answers and support utilizing cutting-edge technologies to advance the way you see the genome.  Our clinical services offer a genetic testing experience that combines a comprehensive testing portfolio with thoughtful and accessible support options for the diagnostic journey. Bionano Laboratories also offers direct access to optical genome mapping for applications across basic, translational and clinical research. For more information, visit

Forward-Looking Statements of Bionano Genomics

This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. Words such as “may,” “potential,” “would”   and similar expressions (as well as other words or expressions referencing future events, conditions or circumstances) convey uncertainty of future events or outcomes and are intended to identify these forward-looking statements. Forward-looking statements include statements regarding our intentions, beliefs, projections, outlook, analyses or current expectations concerning, among other things, the ability and utility of the OGM for use in the detection or diagnosis of FSHD; and the ability of OGM-based LDTs to remove barriers for OGM adoption in clinical and research settings. Each of these forward-looking statements involves risks and uncertainties. Actual results or developments may differ materially from those projected or implied in these forward-looking statements. Factors that may cause such a difference include the risks and uncertainties associated with: the impact of adverse geopolitical and macroeconomic events, such as recent and potential future bank failures, potential global pandemics and the ongoing conflicts between Ukraine and Russia and Israel and Hamas, on our business and the global economy; general market conditions; the failure of the OGM-LDTs to prove useful for the detection or diagnosis of FSHD; the failure of OGM-based LDTs to remove barriers for OGM adoption in clinical and research settings; the ability of our OGM solutions to offer the anticipated benefits for and contributions to the areas reported in the study results referenced in this press release; future study results contradicting the study results reported in the publication referenced in this press release; general market conditions; changes in the competitive landscape and the introduction of competitive technologies or improvements to existing technologies; changes in our strategic and commercial plans; our ability to obtain sufficient financing to fund our strategic plans and commercialization efforts and the ability of our parent corporation, Bionano Genomics, Inc., to continue as a “going concern”; the ability of medical and research institutions to obtain funding to support adoption or continued use of our services and technologies; and the risks and uncertainties associated with our business and financial condition in general, including the risks and uncertainties described in the filings of our parent corporation, Bionano Genomics, Inc., with the Securities and Exchange Commission, including, without limitation, its Annual Report on Form 10-K for the year ended December 31, 2022 and in other filings subsequently made by them with the Securities and Exchange Commission. All forward-looking statements contained in this press release speak only as of the date on which they were made and are based on management’s assumptions and estimates as of such date. We do not undertake any obligation to publicly update any forward-looking statements, whether as a result of the receipt of new information, the occurrence of future events or otherwise.


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Erik Holmlin, CEO
Bionano Genomics, Inc.
+1 (858) 888-7610

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Bionano Genomics