GJB1 Gene Dejerine-Sottas Disease Genetic Test
Test Name: GJB1 Gene Dejerine-Sottas Disease Genetic Test
Components: GJB1 gene analysis
Price: 4400.0 AED
Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card
Report Delivery: 5 to 4 Weeks
Method: NGS Technology
Test Type: Neurological Disorders
Doctor: Neurologist
Test Department: Genetics
Pre Test 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.
Test Details
Dejerine-Sottas Disease (DSD) is a rare genetic disorder that affects the peripheral nerves, causing muscle weakness and sensory loss. It is caused by mutations in the GJB1 gene, which provides instructions for making a protein called connexin 32. This protein is important for the formation and maintenance of myelin, the fatty substance that covers and protects nerve fibers.
NGS (next-generation sequencing) genetic testing can be used to identify mutations in the GJB1 gene that cause DSD. This type of testing uses advanced technology to sequence large amounts of DNA quickly and accurately, allowing for the detection of even small changes in the genetic code. NGS testing can help diagnose DSD and identify carriers of the condition. It can also provide valuable information for family planning and genetic counseling.
Treatment for DSD is primarily supportive and focused on managing symptoms, but early diagnosis through genetic testing can help improve outcomes and quality of life for individuals with the condition.
Test Name | GJB1 Gene Dejerine-Sottas disease Genetic Test |
---|---|
Components | |
Price | 4400.0 AED |
Sample Condition | Blood or Extracted DNA or One drop Blood on FTA Card o |
Report Delivery | 5 to 4 Weeks |
Method | NGS Technology |
Test type | Neurological Disorders |
Doctor | Neurologist |
Test Department: | Genetics |
Pre Test 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 |
Test Details |
Dejerine-Sottas disease (DSD) is a rare genetic disorder that affects the peripheral nerves, causing muscle weakness and sensory loss. It is caused by mutations in the GJB1 gene, which provides instructions for making a protein called connexin 32. This protein is important for the formation and maintenance of myelin, the fatty substance that covers and protects nerve fibers. NGS (next-generation sequencing) genetic testing can be used to identify mutations in the GJB1 gene that cause DSD. This type of testing uses advanced technology to sequence large amounts of DNA quickly and accurately, allowing for the detection of even small changes in the genetic code. NGS testing can help diagnose DSD and identify carriers of the condition. It can also provide valuable information for family planning and genetic counseling. Treatment for DSD is primarily supportive and focused on managing symptoms, but early diagnosis through genetic testing can help improve outcomes and quality of life for individuals with the condition. |