DMD/BMD - (Duchenne/Becker Muscular Dystrophy) - 79 Exons Test

This test is more comprehensive as it analyzes all 79 exons of the DMD gene, making it more sensitive in detecting mutations, including small ones, that cause DMD or BMD.

This test is crucial for diagnosing Duchenne or Becker Muscular Dystrophy, identifying carrier status in female relatives, and making informed decisions regarding family planning and management.

Individuals showing symptoms of muscle weakness or degeneration, family members of individuals diagnosed with DMD or BMD, and pregnant women with a family history of these conditions should consider taking this test.

The test is performed using a blood sample, which is then analyzed in a laboratory for mutations in the DMD gene.

Results can indicate the presence or absence of mutations in the DMD gene. A positive result may confirm a diagnosis of DMD or BMD or indicate carrier status.

Yes, identifying the specific mutations in the DMD gene can help predict the likely course and severity of Duchenne or Becker Muscular Dystrophy.

While there is no cure, treatment options include physical therapy, medications, respiratory support, and sometimes surgical interventions to manage symptoms and improve quality of life.

Knowing the carrier status and understanding the risks involved allows families to make informed decisions regarding family planning and prenatal testing.

Females are usually carriers of the mutated gene, but in rare cases, they can have mild symptoms of the disorder.

Genetic counseling helps individuals and families understand the implications of the test results and provides guidance on management and family planning options.

Yes, prenatal testing is available for families with a known DMD or BMD mutation to determine if the fetus has the disorder.

Research is ongoing, and experimental treatments like gene therapy are being studied as potential future options for treating DMD or BMD.

Several organizations provide support, education, and resources for families affected by DMD or BMD, such as the Muscular Dystrophy Association and Parent Project Muscular Dystrophy.

Physiotherapy can help to maintain mobility, manage symptoms, and improve the quality of life for individuals with DMD or BMD.

Early detection and understanding of DMD or BMD can significantly impact the management of these conditions. The comprehensive DMD/BMD - 79 Exons Test allows for a detailed analysis of the DMD gene, which is essential for accurate diagnosis and informed decision-making regarding treatment and family planning. It is vital for individuals and families to engage in genetic counseling to comprehend the implications of test results and to navigate the challenges of living with Duchenne or Becker Muscular Dystrophy. Engaging healthcare professionals and support communities can also be invaluable in managing these conditions.