Short Description

NGS genetic DNA test detecets for variant and mutation detection in MPZ gene for CMT4E

PreTest Information

Clinical History of Patient who is going for MPZ Gene CMT4E NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with MPZ Gene CMT4E

Detail Description

MPZ Gene CMT4E NGS Genetic DNA Test: Symptoms, Diagnosis, and Cost in India

DNA Labs India offers the MPZ Gene CMT4E NGS Genetic DNA Test for individuals who may be experiencing symptoms related to Charcot-Marie-Tooth disease (CMT). This genetic test can help diagnose CMT4E, a rare subtype of CMT, and is available at a cost of INR 20,000 in India.

What is CMT4E?

Charcot-Marie-Tooth disease (CMT) is a group of inherited disorders that affect the peripheral nerves, which are responsible for transmitting signals between the brain and spinal cord and the rest of the body. CMT4E is a rare subtype of CMT that is caused by mutations in the MPZ gene. This gene provides instructions for making a protein called myelin protein zero, which is important for the structure and function of the myelin sheath that surrounds and protects nerve fibers.

Symptoms of CMT4E

Individuals with CMT4E may experience a range of symptoms, including:

• Weakness in the legs and arms
• Numbness or tingling in the hands and feet
• Difficulty walking
• Foot deformities, such as high arches or hammertoes
• Loss of muscle mass in the legs and feet
• Difficulty with fine motor skills, such as writing or buttoning clothes

These symptoms typically appear in childhood or adolescence and can worsen over time. In severe cases, individuals with CMT4E may require the use of a wheelchair.

Diagnosis of CMT4E

Diagnosis of CMT4E typically involves a combination of clinical evaluation and genetic testing. A physical exam may reveal weakness in the legs and arms, foot deformities, and other signs of nerve damage. Nerve conduction studies and electromyography (EMG) can also be used to evaluate nerve function.

Genetic testing, such as the MPZ Gene CMT4E NGS Genetic DNA Test offered by DNA Labs India, can help confirm a diagnosis of CMT4E. This test analyzes the MPZ gene for mutations that are associated with the condition.

Cost of the MPZ Gene CMT4E NGS Genetic DNA Test

The cost of the MPZ Gene CMT4E NGS Genetic DNA Test at DNA Labs India is INR 20,000. This includes the cost of the genetic test, as well as any counseling or support that may be needed before and after testing.

Conclusion

The MPZ Gene CMT4E NGS Genetic DNA Test offered by DNA Labs India can help diagnose CMT4E, a rare subtype of Charcot-Marie-Tooth disease. This genetic test is available at a cost of INR 20,000 in India and can provide important information for individuals and their families who may be affected by this condition.

If you or a loved one is experiencing symptoms of CMT or has a family history of the condition, consider speaking with a healthcare provider or genetic counselor to learn more about testing options and next steps.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for MPZ Gene CMT4E NGS Genetic DNA Test