DMD/BMD (Duchenne/Becker Muscular Dystrophy) 18 Exons Test - Price, Normal Range | Sprint Diagnostics Hyderabad
Patient Preparing : No special preparation is required before giving the blood sample.
Duchenne and Becker Muscular Dystrophy (DMD/BMD) are genetic disorders characterized by progressive muscle degeneration and weakness. Both are caused by mutations in the DMD gene, which is responsible for the production of dystrophin, a protein essential for muscle fiber stability. Duchenne Muscular Dystrophy is more severe than Becker Muscular Dystrophy. The DMD/BMD - 18 exons test is a genetic test that analyzes 18 exons of the DMD gene to detect mutations that cause DMD or BMD.
This test is vital for the diagnosis of Duchenne or Becker Muscular Dystrophy, carrier testing for female relatives, and prenatal diagnosis for pregnancies at increased risk. Early diagnosis of DMD or BMD can enable timely management and intervention to improve quality of life.
|DMD/BMD - (Duchenne/Becker Muscular Dystrophy) - 18 Exons Test
|No special preparation is required before giving the blood sample.
What is the DMD/BMD - 18 Exons Test?
The DMD/BMD - 18 Exons Test is a genetic test that analyzes 18 exons of the DMD gene to detect mutations responsible for Duchenne and Becker Muscular Dystrophy.
Why is this test important?
This test is crucial for diagnosing Duchenne or Becker Muscular Dystrophy, determining carrier status in female relatives, and making informed decisions during pregnancy if there is an increased risk for DMD or BMD.
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Who should get tested?
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 getting tested.
What is Duchenne Muscular Dystrophy?
Duchenne Muscular Dystrophy (DMD) is a severe form of muscular dystrophy characterized by rapid progression of muscle degeneration that occurs early in life.
What is Becker Muscular Dystrophy?
Becker Muscular Dystrophy (BMD) is similar to DMD but is less severe and has a slower progression. Muscle weakness usually starts later in life compared to DMD.
How are DMD and BMD managed?
While there's no cure, management includes physical therapy, medications, respiratory support, and sometimes surgical interventions to manage symptoms and improve quality of life.
What are the symptoms of DMD and BMD?
Symptoms include muscle weakness, difficulty walking or running, frequent falls, difficulty getting up from a lying or sitting position, and muscle wasting.
Are DMD and BMD hereditary?
Yes, DMD and BMD are hereditary conditions, passed down through families via the X chromosome.
Can females have DMD or BMD?
Females are typically carriers of the mutated gene but can sometimes show mild symptoms of the disorder.
What is the significance of the 18 exons in the test?
The DMD gene consists of 79 exons. The 18 exons selected for this test are among those most commonly affected by mutations causing DMD and BMD.
What are the potential results of this test?
Results can indicate a mutation in one or more of the 18 exons analyzed, which may confirm a diagnosis of DMD or BMD, or indicate carrier status.
What do I do if my test results are positive?
If the test results are positive, it is advisable to consult a genetic counselor or specialist for guidance on management and family planning.
Can this test be done during pregnancy?
Yes, expectant mothers with a family history of DMD or BMD may undergo this test for prenatal diagnosis.
Can DMD or BMD be cured?
There is currently no cure for DMD or BMD. Treatment focuses on managing symptoms and improving quality of life.
What is the role of genetic counseling?
Genetic counseling is essential for understanding the implications of test results, the nature of DMD and BMD, and making informed decisions regarding family planning.
Gaining insights into Duchenne or Becker Muscular Dystrophy through the DMD/BMD - 18 Exons Test can be life-altering for individuals and families. With a positive diagnosis, adopting the proper management strategies and understanding the implications for family planning becomes paramount. Consulting healthcare professionals, particularly genetic counselors, and establishing a support system are essential steps following a diagnosis
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