GeneDx to present data on urine mitochondrial DNA testing

GeneDx will present new data on urine mitochondrial DNA testing at the 2023 United Mitochondrial Disease Foundation’s Mitochondrial Medicine Symposium in Charlotte, North Carolina, June 28 – July 1, 2023. “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. The m.3243Agreater thanG 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 syndrome, maternally inherited diabetes and deafness, 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.3243Agreater thanG 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.3243Agreater thanG variant.”