Foster City, CA and Bangalore-based MedGenome Labs announced the launch of its Facioscapulohumeral Muscular Dystrophy Type 1 (FSHD1) test. This genetic test can detect large-scale insertions and duplications, as well as more subtle changes in DNA that can cause FSHD1 patients to get an early and accurate diagnosis, leading to improved disease management options.
FSHD1 is a rare genetic disorder that affects the muscles of the face, shoulder blades, and upper arms. The disease is caused by the deletion of genetic material from the D4Z4 repeat region on chromosome 4, leading to the loss of muscle tissue and weakness in affected areas. The disease is progressive and can lead to severe disability in some cases.
Dr. Vedam Ramprasad, CEO (India) of MedGenome Labs Ltd., said, “As a company dedicated to improving patient care through genetics, we are thrilled to be the first in India to offer the Optical Genome Mapping Test for FSHD1. This is a significant step forward in our mission to provide the highest quality genetic testing services to clinicians and healthcare providers across the country. The launch of this new test represents a major milestone in the diagnosis and management of FSHD1 in India.”
