Short Description

Duchenne and Becker Muscular Dystrophy (DMD & BMD) are X-linked neuromuscular diseases of childhood resulting from a defect in the dystrophin gene. Deletion of one or more exons in the dystrophin gene may cause DMD/BMD. This assay detects deletions in all 79 exons of the dystrophin gene in both males & females.

PreTest Information

Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.

Detail Description

DUCHENNE / BECKER MUSCULAR DYSTROPHY (DMD / BMD) GENE MUTATION Test Cost INR:14000 Symptoms Diagnosis

Duchenne and Becker Muscular Dystrophy are both genetic disorders that affect the muscles. Duchenne Muscular Dystrophy (DMD) is a more severe form of the disorder. Becker Muscular Dystrophy (BMD) is less severe, but still has a significant impact on an individual's quality of life. Both DMD and BMD are caused by mutations in the dystrophin gene, which is responsible for producing a protein that helps to strengthen and protect the muscles.

Symptoms of DMD and BMD

The symptoms of DMD and BMD typically appear in early childhood. Children with DMD may have difficulty walking, running, and jumping. They may also have weak muscles in their arms, legs, and torso. As the disease progresses, they may develop difficulty breathing and heart problems. Children with BMD may have similar symptoms, but they tend to be less severe and progress more slowly. Individuals with BMD may be able to walk into adulthood, but may experience muscle weakness and fatigue.

Diagnosis

The diagnosis of DMD and BMD is typically made through a combination of physical examination, medical history, and genetic testing. Blood tests can be used to look for mutations in the dystrophin gene. A muscle biopsy may also be performed to look for signs of muscle damage.

DMD/BMD Gene Mutation Test Cost

The cost of DMD/BMD gene mutation testing varies depending on the laboratory and location. In India, the cost of the test is typically around INR 14000. However, the cost may be higher or lower depending on the specific laboratory and the services provided.

Conclusion

DMD and BMD are both genetic disorders that can have a significant impact on an individual's quality of life. Early diagnosis and treatment can help to manage symptoms and improve outcomes. Genetic testing is an important tool in diagnosing DMD and BMD and can help individuals and families make informed decisions about their healthcare. If you or a loved one is experiencing symptoms of DMD or BMD, it is important to speak with a healthcare provider to determine the best course of action.

For more information about DMD/BMD gene mutation testing, contact DNA Labs India.