Short Description

NGS genetic DNA test detecets for variant and mutation detection in DNM2 gene for DI-CMTB

PreTest Information

Clinical History of Patient who is going for DNM2 Gene DI-CMTB NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with DNM2 Gene DI-CMTB

Detail Description

DNM2 Gene DI-CMTB NGS Genetic DNA Test

DNM2 gene is responsible for providing instructions to the body to produce dynamin 2 protein. This protein is essential for the proper functioning of muscles, especially in the feet and hands. Any mutations in the DNM2 gene can result in a rare genetic disorder known as DNM2-related centronuclear myopathy (DNM2-CNM).

DNM2-CNM is a progressive disorder that affects the muscles, leading to weakness and wasting of muscles in the feet, legs, and hands. It can also affect the muscles involved in breathing and swallowing. The severity of the condition can vary from mild to severe, and symptoms can appear at any age.

Symptoms of DNM2-CNM

• Muscle weakness and wasting in feet, legs, and hands
• Drooping eyelids
• Difficulty in swallowing
• Breathing difficulties
• Speech difficulties

Diagnosis of DNM2-CNM

DNM2-CNM can be diagnosed through a genetic test that analyzes the DNM2 gene for mutations. The DI-CMTB NGS Genetic DNA Test is a highly accurate and reliable test that can detect mutations in the DNM2 gene.

The test involves collecting a sample of the patient's DNA, usually through a blood sample. The DNA is then analyzed using next-generation sequencing (NGS) technology to detect any mutations in the DNM2 gene.

Cost of DI-CMTB NGS Genetic DNA Test

The cost of the DI-CMTB NGS Genetic DNA Test for DNM2-CNM is INR 20,000 in India. This cost includes the DNA sample collection, analysis, and interpretation of the results by a team of expert geneticists.

Conclusion

The DI-CMTB NGS Genetic DNA Test is a valuable tool in the diagnosis of DNM2-related centronuclear myopathy. Early diagnosis can help patients receive appropriate treatment and improve their quality of life. DNA Labs India provides a reliable and affordable genetic testing service for DNM2-CNM.

If you or a loved one are experiencing any of the symptoms of DNM2-CNM, consult a healthcare professional and consider getting a genetic test to rule out any underlying genetic conditions.