Short Description

NGS genetic DNA test detecets for variant and mutation detection in DYNC1H1 gene for Charcot-Marie-Tooth disease, axonal type 20

PreTest Information

Clinical History of Patient who is going for DYNC1H1 Gene Charcot-Marie-Tooth disease, axonal type 20 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with DYNC1H1 Gene Charcot-Marie-Tooth disease, axonal type 20

Detail Description

DYNC1H1 Gene Charcot-Marie-Tooth Disease

Charcot-Marie-Tooth Disease (CMT) is a group of inherited neurological disorders affecting the peripheral nervous system. It is characterized by muscle weakness and wasting, particularly in the lower legs and feet. CMT affects approximately 1 in 2,500 individuals worldwide.

One type of CMT is the axonal type 20, which is caused by mutations in the DYNC1H1 gene. The DYNC1H1 gene provides instructions for making a protein that is essential for the transportation of various organelles and molecules within cells, including nerve cells. Mutations in this gene disrupt the transportation process, leading to the degeneration of peripheral nerves and muscle weakness.

Symptoms of DYNC1H1 Gene Charcot-Marie-Tooth Disease

The symptoms of axonal type 20 CMT vary from person to person and can range from mild to severe. Some of the common symptoms include:

• Muscle weakness and wasting in the lower legs and feet, which can spread to the hands and forearms over time
• Difficulty walking, running, or climbing stairs
• Tingling or numbness in the hands and feet
• Loss of sensation in the limbs
• Foot deformities such as high arches or hammertoes

Diagnosing DYNC1H1 Gene Charcot-Marie-Tooth Disease

Diagnosing axonal type 20 CMT can be challenging, as the symptoms can be similar to other neurological disorders. However, genetic testing can help identify mutations in the DYNC1H1 gene, confirming the diagnosis.

DNA Labs India offers NGS Genetic DNA testing for axonal type 20 CMT at an affordable cost of INR 20000. Our test can detect mutations in the DYNC1H1 gene with high accuracy, providing an early diagnosis and enabling timely treatment.

To undergo the test, all you need to do is provide a DNA sample, which can be collected through a simple blood test or saliva sample. Our expert genetic counselors will guide you through the process and provide a detailed report of the test results.

Conclusion

If you or someone you know is experiencing symptoms of axonal type 20 CMT, it is important to seek medical attention and get a proper diagnosis. DNA Labs India can help diagnose the condition through NGS Genetic DNA testing at an affordable cost of INR 20000. Early diagnosis can improve the chances of successful treatment and management of the condition.

Charcot-Marie-Tooth disease (CMT) is a group of inherited disorders that affect the peripheral nerves, leading to muscle weakness and sensory deficits. Axonal type 20 of Charcot-Marie-Tooth disease is associated with mutations in the DYNC1H1 gene (Dynein, cytoplasmic 1, heavy chain 1).