MARFAN'S SYNDROME BY NGS

喙 Marfan's Syndrome by Next-Generation Sequencing (NGS) at MedEx Neo Clinic, Kathmandu  The Marfan’s Syndrome genetic test by NGS at MedEx Neo Clinic, Kathmandu detects mutations in the FBN1 gene and other associated genes responsible for Marfan syndrome, a connective tissue disorder. This comprehensive panel uses advanced sequencing technology to identify pathogenic variants causing cardiovascular, skeletal, and ocular abnormalities characteristic of the syndrome. Early genetic diagnosis enables personalized management, risk assessment for family members, and preventive care for life-threatening complications such as aortic aneurysm. Blood samples or buccal swabs are used for testing. MedEx Neo Clinic provides expert genetic counseling and an easy online booking system to support patients and families.