MedGenome Laboratories, Bangalore, announced the launch of the Optical Genome Mapping Test (OGM) for diagnosing Facioscapulohumeral Muscular Dystrophy Type 1 (FSHD1) in India to provide an assessment of the genetic changes in patients with FSHD1.

The test can find both more subtle genomic alterations that can result in FSHD1 and large-scale insertions and duplications. In India, 2–3% of FSHD-1 cases are reported annually. The face, shoulder blades, and upper arm muscles are some of the body parts that are severely affected in FSHD1 and can cause severe disability in some cases.

During the launch, Mr. Vedam Ramprasad, Ph.D., CEO (India) of MedGenome Laboratories, stated that the Optical Genome Mapping Test for FSHD1 is a novel test that marked a significant turning point in the treatment and diagnosis of FSHD1 in India.

Vice President of Lab Operations at MedGenome, Dr. Sakthivel Murugan SM, remarked that, as a doctor, he is aware of the difficulties and worries that people with facioscapulohumeral muscular dystrophy type 1 (FSHD1) experience. He further added that this test is a crucial step forward in promoting precision medicine in India. 

(Source: https://health.economictimes.indiatimes.com/news/diagnostics/medgenome-to-launch-genetic-test-to-diagnose-fshd1/98305705)