Short Description

NGS genetic DNA test detecets for variant and mutation detection in NDRG1 gene for CMT4D

PreTest Information

Clinical History of Patient who is going for NDRG1 Gene CMT4D NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with NDRG1 Gene CMT4D

Detail Description

NDRG1 Gene CMT4D NGS Genetic DNA Test: Symptoms, Diagnosis and Cost

Charcot-Marie-Tooth disease (CMT) is a group of inherited genetic disorders that affect the peripheral nerves responsible for movement and sensation. One type of CMT, known as CMT4D, is caused by mutations in the NDRG1 gene. This gene provides instructions for making a protein that is important for the maintenance and function of myelin, the protective covering around nerves.

Symptoms of CMT4D

CMT4D typically begins in childhood or adolescence and can affect both motor and sensory nerves. Symptoms may include:

• Weakness and muscle wasting in the feet, ankles, and legs
• Difficulty with balance and coordination
• Numbness and tingling in the hands and feet
• Loss of muscle control in the hands, resulting in difficulty with fine motor skills
• Foot deformities, such as high arches or hammertoes

These symptoms may gradually worsen over time, leading to difficulty with walking and other activities of daily living.

Diagnosis of CMT4D

CMT4D can be diagnosed through a genetic test that looks for mutations in the NDRG1 gene. This test can be performed using next-generation sequencing (NGS) technology, which allows for the rapid and cost-effective analysis of multiple genes simultaneously. To confirm a diagnosis, a doctor may also perform a nerve conduction study and electromyography to assess the function of the peripheral nerves.

Cost of NDRG1 Gene CMT4D NGS Genetic DNA Test

The cost of the NDRG1 gene CMT4D NGS genetic DNA test in India is typically around INR 20,000. This cost may vary depending on the specific laboratory or provider offering the test. Some insurance plans may cover the cost of genetic testing for CMT4D, so it is recommended to check with your provider before undergoing testing.

Conclusion

CMT4D is a rare genetic disorder that can cause significant disability over time. However, early diagnosis through genetic testing can help individuals and their families better understand the condition and make informed decisions about treatment and management. If you or a loved one is experiencing symptoms of CMT, it is important to speak with a healthcare provider to determine if genetic testing may be appropriate.

At DNA Labs India, we offer a range of genetic tests, including NDRG1 gene CMT4D NGS genetic DNA testing, to help individuals and families better understand their health. Our team of experienced professionals is dedicated to providing accurate and timely results, as well as personalized support and guidance throughout the testing process.

Contact us today to learn more about our genetic testing services.

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 NDRG1 Gene CMT4D NGS Genetic DNA Test