STAMFORD, Conn., June 28, 2023 (GLOBE NEWSWIRE) -- GeneDx (Nasdaq: WGS), a leader in delivering improved health outcomes through genomic and clinical insights, today announced it will present new data on urine mitochondrial DNA testing at the 2023 United Mitochondrial Disease Foundation’s (UMDF) Mitochondrial Medicine Symposium in Charlotte, North Carolina, June 28 - July 1, 2023.
Poster: Is the m.3243A>G variant detected in urine diagnostic for the patient’s disease?
Presenter: Renkui Bai, M.D., Ph.D., FACMG, Director, Clinical Genetics at GeneDx
Date/Time: Thursday, June 29, 2023, at 5:45 PM ET
“Mitochondrial disease may be caused by genetic variants in DNA found in the nucleus of cells or by genetic variants in the body's mitochondrial DNA (mtDNA). The m.3243A>G variant is found in the mitochondrial MT-TL1 gene and is the most common pathogenic mtDNA variant linked to conditions including mitochondrial encephalopathy, lactic acidosis, and stroke-like episode (MELAS) syndrome, maternally inherited diabetes and deafness (MIDD), and mitochondrial myopathy,” said Renkui Bai, M.D., Ph.D., FACMG, Director, Clinical Genetics at GeneDx. “To date, systemic evaluation of patient demographics, age of disease onset, and level of heteroplasmy in different tissue types has been challenging to report for patients with the m.3243A>G variant. Data presented this week by GeneDx demonstrates how urine mitochondrial DNA testing can be a clinically impactful and non-invasive option for analysis of the m.3243A>G variant.”
GeneDx (Nasdaq: WGS) delivers personalized and actionable health insights to inform diagnosis, direct treatment and improve drug discovery. The company is uniquely positioned to accelerate the use of genomic and large-scale clinical information to enable precision medicine as the standard of care. GeneDx is at the forefront of transforming healthcare through its industry-leading exome and genome testing and interpretation, fueled by one of the world’s largest, rare disease data sets. For more information, please visit genedx.com and connect with us on LinkedIn, Facebook, Twitter, and Instagram.
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