Short Description

NGS genetic DNA test detecets for variant and mutation detection in EGR2 gene for Dejerine-Sottas disease

PreTest Information

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

Detail Description

EGR2 Gene Dejerine-Sottas Disease NGS Genetic DNA Test - Cost, Symptoms & Diagnosis

Dejerine-Sottas disease is a rare genetic disorder that affects the peripheral nerves. It is a type of Charcot-Marie-Tooth disease and is caused by mutations in the EGR2 gene. The disease is named after two French physicians, Joseph Jules Dejerine and Pierre Marie Sottas, who first described it in 1893.

Symptoms of Dejerine-Sottas Disease

The symptoms of Dejerine-Sottas disease typically begin in early childhood and worsen over time. The most common symptoms include:

• Muscle weakness and wasting
• Numbness and tingling in the limbs
• Poor balance and coordination
• Hammertoes and high arches
• Scoliosis

The severity of the symptoms can vary greatly from person to person, even within families with the same mutation. Some people may be able to walk without assistance while others may require a wheelchair.

Diagnosis of Dejerine-Sottas Disease

Dejerine-Sottas disease is typically diagnosed through a combination of clinical examination, nerve conduction studies, and genetic testing. The nerve conduction studies can help to determine the extent of nerve damage while genetic testing can confirm the presence of the EGR2 gene mutation.

NGS Genetic DNA Test

The NGS (Next Generation Sequencing) Genetic DNA test is a comprehensive genetic test that can detect mutations in the EGR2 gene. The test uses advanced sequencing technology to analyze the entire coding region of the gene, which increases the accuracy of the test.

The NGS Genetic DNA test can also detect mutations in other genes that may be associated with similar symptoms, which can help to provide a more accurate diagnosis. The cost of the test is INR 20,000.

Conclusion

Dejerine-Sottas disease is a rare genetic disorder that can cause significant disability. Early diagnosis and genetic testing can help to provide a more accurate diagnosis and enable individuals to receive appropriate treatment and support. The NGS Genetic DNA test is a comprehensive genetic test that can detect mutations in the EGR2 gene and other associated genes. The cost of the test is INR 20,000.

If you suspect that you or a family member may have Dejerine-Sottas disease, it is important to speak with a genetic counselor or medical professional who can provide guidance and support.

For more information on genetic testing and counseling services, please contact DNA Labs India.