GeneDx to Present New Data on Urine Mitochondrial DNA Testing at the 2023 United Mitochondrial Disease Foundation’s Mitochondrial Medicine Symposium
28 Junio 2023 - 6:00AM
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 GeneDxDate/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.”
About GeneDxGeneDx (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.
Investor Relations Contact:Tricia
TruehartInvestors@GeneDx.com
Media Contact:Maurissa
MessierPress@GeneDx.com
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