Short Description

DMD/BMD mutation screening (26 exons) is performed using Multiplex End Point PCR methodology. Sample that have to be given is Peripheral blood in EDTA Vacutainer (2ml) for this test. You can expect results in 4-5 days

PreTest Information

DMD/BMD mutation screening (26 exons) can be done with a Doctor’s prescription. Prescription is not applicable for surgery and pregnancy cases or people planing to travel abroad.

Detail Description

DMD/BMD Mutation Screening: Cost, Symptoms, and Diagnosis

DMD (Duchenne muscular dystrophy) and BMD (Becker muscular dystrophy) are genetic disorders that affect muscle function. Both are caused by mutations in the DMD gene, which produces a protein called dystrophin that helps muscles work properly. DMD is more severe than BMD, and symptoms typically appear in early childhood. BMD is milder and can appear later in life.

Screening for DMD/BMD Mutations

If you suspect that you or a loved one may have DMD or BMD, it's important to get screened for mutations in the DMD gene. This can be done through a blood test that looks for changes in the genetic code of the DMD gene. The test usually looks at all 26 exons of the DMD gene, which are the regions that code for the dystrophin protein. This comprehensive screening can help identify the specific mutation causing the disorder.

Cost of DMD/BMD Mutation Screening

The cost of DMD/BMD mutation screening in India can vary depending on the laboratory and the specific test used. However, DNA Labs India offers DMD/BMD mutation screening for all 26 exons of the DMD gene for INR 7500. This price includes the cost of the test, as well as genetic counseling to help you understand the results and what they mean for you or your family.

Symptoms of DMD/BMD

The symptoms of DMD and BMD can vary, but both disorders affect muscle function. Symptoms of DMD usually appear in early childhood and may include:

• Delayed motor milestones
• Difficulty walking
• Frequent falls
• Weakness in the legs, hips, and pelvis
• Difficulty standing up from a sitting or lying position

Symptoms of BMD may appear later in life and are typically milder than those of DMD. These symptoms may include:

• Difficulty walking or running
• Difficulty getting up from a chair or the floor
• Weakness in the legs, hips, and pelvis
• Calf muscle enlargement

Diagnosis of DMD/BMD

Diagnosing DMD/BMD usually involves a combination of genetic testing, physical examination, and muscle biopsy. A blood test can identify mutations in the DMD gene, and a physical exam can help identify muscle weakness and other symptoms. A muscle biopsy involves removing a small sample of muscle tissue for analysis under a microscope.

If you or a loved one is experiencing symptoms of DMD/BMD, it's important to see a doctor for a diagnosis. Early diagnosis and treatment can help manage symptoms and improve quality of life.

Conclusion

DMD/BMD mutation screening can help identify the specific mutation causing these genetic disorders. DNA Labs India offers comprehensive screening for all 26 exons of the DMD gene for INR 7500. If you or a loved one is experiencing symptoms of DMD/BMD, it's important to see a doctor for a diagnosis. Early diagnosis and treatment can help manage symptoms and improve quality of life.