NEW YORK – The United Mitochondrial Disease Foundation will offer free genetic testing to certain patients with suspected primary mitochondrial diseases, the not-for-profit said Thursday.
The free testing program is designed to help clinicians obtain molecular genetic diagnoses for patients who show signs of a primary mitochondrial disease. About 1 in 5,000 people have such a disease, according to the United Mitochondrial Disease Foundation, but diagnosing them can be challenging, since symptoms are often nonspecific.
The test, which must be ordered by a clinician, uses next-generation sequencing to analyze a patient's entire mitochondrial genome and a panel of 320 nuclear genes that have been linked with mitochondrial disorders.
"A genetic diagnosis is critical for mitochondrial disease patients," said Brian Harman, the foundation's president and CEO, in a statement. "It helps patients to access specialized medical healthcare, boosts [their] chances to participate in clinical trials, and provides patients the comfort in knowing the precise nature of [their] disease."
The program is funded through a grant from Reneo Pharmaceuticals, a company developing therapies for patients with rare genetic mitochondrial diseases.