Short Description

NGS genetic DNA test detecets for variant and mutation detection in GJB1 gene for Dejerine-Sottas disease

PreTest Information

Clinical History of Patient who is going for GJB1 Gene Dejerine-Sottas disease NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with GJB1 Gene Dejerine-Sottas disease

Detail Description

GJB1 Gene Dejerine-Sottas Disease NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Dejerine-Sottas disease is a rare genetic disorder that affects the peripheral nerves. It is caused by mutations in the GJB1 gene. The GJB1 gene provides instructions for making a protein called connexin 32, which is involved in the formation of gap junctions. Gap junctions are channels that allow cells to communicate with each other.

Symptoms of Dejerine-Sottas Disease

The symptoms of Dejerine-Sottas disease usually appear in early childhood. The symptoms may include:

• Muscle weakness
• Numbness or tingling in the hands and feet
• Difficulty walking
• Loss of sensation in the limbs
• Curvature of the spine (scoliosis)

Diagnosis of Dejerine-Sottas Disease

Dejerine-Sottas disease is diagnosed through a variety of tests. These tests may include:

• Physical exam: A doctor will examine the patient for signs of muscle weakness, numbness, or other symptoms.
• Electromyography (EMG): This test measures the electrical activity of the muscles and nerves.
• Nerve conduction studies: This test measures the speed at which nerves transmit electrical signals.
• Genetic testing: This test looks for mutations in the GJB1 gene.

NGS Genetic DNA Test

Next-generation sequencing (NGS) is a technology that allows for the rapid sequencing of DNA. NGS genetic DNA testing can be used to detect mutations in the GJB1 gene that cause Dejerine-Sottas disease. This test can be done on a blood sample or a tissue sample.

Cost of NGS Genetic DNA Test for Dejerine-Sottas Disease

The cost of NGS genetic DNA testing for Dejerine-Sottas disease in India is typically around INR 20,000.

Conclusion

Dejerine-Sottas disease is a rare genetic disorder that affects the peripheral nerves. It is caused by mutations in the GJB1 gene. The symptoms of Dejerine-Sottas disease include muscle weakness, numbness or tingling in the hands and feet, difficulty walking, loss of sensation in the limbs, and scoliosis. Dejerine-Sottas disease can be diagnosed through a variety of tests, including genetic testing. NGS genetic DNA testing can be used to detect mutations in the GJB1 gene that cause Dejerine-Sottas disease. The cost of NGS genetic DNA testing for Dejerine-Sottas disease in India is typically around INR 20,000.

If you suspect that you or a loved one may have Dejerine-Sottas disease, it is important to seek medical attention and undergo testing to receive a proper diagnosis.

For more information on NGS genetic DNA testing for Dejerine-Sottas disease, contact DNA Labs India.

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 GJB1 Gene Dejerine-Sottas disease NGS Genetic DNA Test