MedGenome launches genetic test to diagnose FSHD1
Ahead of the Rare Disease Day, MedGenome Labs, a leading provider of genetic testing services in India, has announced the launch of a ground-breaking first-ever Facioscapulohumeral Muscular Dystrophy Type 1 (FSHD1) test in India. MedGenome Labs is the first commercial lab to offer this new genetic test that will help individuals with FSHD1 to get an early and accurate diagnosis, leading to improved disease management options.
The FSHD1 Optical Genome Mapping Test (OGM) is a highly advanced diagnostic tool that uses cutting-edge technology to provide a comprehensive and accurate assessment of genetic changes in patients with FSHD1. The test can detect large-scale insertions and duplications, as well as more subtle changes in DNA that can cause FSHD1.
Facioscapulohumeral Muscular Dystrophy (FSHD) is a common form of muscular dystrophy with an extremely complex genotype. It is progressive myopathy which accounts for 2 to 3% of the muscular dystrophy cases in India. 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 . FSHD1 affects approximately 1 in 20,000 individuals worldwide, with symptoms typically starting in early adulthood. FSHD1 can have a significant impact on quality of life, as it can result in difficulty with daily activities such as lifting objects or raising arms. The disease is also progressive and can lead to severe disability in some cases. In the present day, there is no known cure for FSHD1, and treatment options are limited. However, many clinical trials are being conducted at an accelerated rate.
Vedam Ramprasad, PhD, CEO (India) of MedGenome Labs Ltd., commented on the launch, saying “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.”
Sakthivel Murugan SM, Vice President – Lab Operations, MedGenome Labs Ltd, said, “As a physician, I understand the challenges and concerns that patients with Facioscapulohumeral Muscular Dystrophy Type 1 (FSHD1) face. With the launch of the FSHD1 test in India, we are proud to offer patients a reliable and accurate diagnostic tool that will allow for early detection and personalized treatment plans. This test is a critical step forward in advancing precision medicine in India. At MedGenome Labs, we remain committed to providing innovative solutions that address the pressing needs of our patients and the broader medical community.”
Facioscapulohumeral Muscular Dystrophy – GeneReviews® – NCBI Bookshelf (nih.gov)
Facioscapulohumeral Muscular Dystrophy – National Organization for Rare Disorders (rarediseases.org)
Tamhankar, P.M. and Phadke, S.R., 2010. Clinical profile and molecular diagnosis in patients of facioscapulohumeral dystrophy from Indian subcontinent. Neurology India, 58(3), p.436.