Short Description

NGS genetic DNA test detecets for variant and mutation detection in EGR2 gene for CMT1D

PreTest Information

Clinical History of Patient who is going for EGR2 Gene CMT1D NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with EGR2 Gene CMT1D

Detail Description

EGR2 Gene CMT1D NGS Genetic DNA Test: Symptoms, Diagnosis, and Cost

Charcot-Marie-Tooth disease (CMT) is a genetic disorder that affects the peripheral nerves, which are responsible for sending messages from the brain and spinal cord to the muscles and sensory organs. CMT1D is a subtype of CMT caused by mutations in the EGR2 gene.

If you suspect that you or a loved one may have CMT1D, a genetic DNA test can provide a definitive diagnosis. In this blog post, we will discuss the symptoms of CMT1D, the diagnostic process, and the cost of the EGR2 gene CMT1D NGS genetic DNA test.

Symptoms of CMT1D

CMT1D usually presents in childhood or adolescence, although symptoms may not appear until adulthood. The most common symptoms of CMT1D include:

• Weakness in the muscles of the feet and legs
• Difficulty with balance and coordination
• Numbness or tingling in the hands and feet
• Foot deformities such as high arches or hammertoes
• Loss of muscle mass in the lower legs
• Difficulty walking on uneven surfaces

These symptoms may worsen over time and can lead to disability in some cases.

Diagnosis of CMT1D

To diagnose CMT1D, your doctor may perform a physical exam, including a neurological exam and testing of muscle strength and reflexes. They may also order an electromyogram (EMG) and nerve conduction studies to assess the function of your peripheral nerves.

If CMT1D is suspected, your doctor may refer you to a genetic counselor or geneticist for further testing. The EGR2 gene CMT1D NGS genetic DNA test is a specific genetic test that can identify mutations in the EGR2 gene that cause CMT1D.

Cost of the EGR2 Gene CMT1D NGS Genetic DNA Test

The cost of the EGR2 gene CMT1D NGS genetic DNA test in India is approximately INR 20,000. This cost may vary depending on the testing facility and any additional testing that may be required.

It is important to note that genetic testing may not be covered by insurance, so it is important to check with your insurance provider before undergoing testing.

Conclusion

If you or a loved one is experiencing symptoms of CMT1D, it is important to seek medical attention and undergo diagnostic testing to receive a proper diagnosis. The EGR2 gene CMT1D NGS genetic DNA test can provide a definitive diagnosis and help guide treatment options. While the cost of testing may vary, it is a valuable investment in your health and well-being.

At DNA Labs India, we offer a wide range of genetic DNA testing services, including the EGR2 gene CMT1D NGS genetic DNA test. Contact us today to schedule your appointment.