PMP22 Gene CMT1E Genetic Test
At DNA Labs UAE, we offer the PMP22 Gene CMT1E Genetic Test for individuals who may be at risk for the inherited neurological disorder known as Charcot-Marie-Tooth disease type 1E (CMT1E). This test can provide a definitive diagnosis and help guide treatment and management options.
Test Components
- Price: 4400.0 AED
- Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card
- Report Delivery: 3 to 4 Weeks
- Method: NGS Technology
- Test Type: Neurological Disorders
- Doctor: Neurologist
- Test Department: Genetics
Pre Test Information
Before undergoing the PMP22 Gene CMT1E Genetic Test, it is important to provide the clinical history of the patient. Additionally, a genetic counseling session may be conducted to draw a pedigree chart of family members affected with PMP22 Gene CMT1E.
Test Details
The PMP22 gene is associated with Charcot-Marie-Tooth disease type 1E (CMT1E), a neurological disorder that affects the peripheral nerves responsible for transmitting signals throughout the body. This disease is caused by mutations in the PMP22 gene, located on chromosome 17. The PMP22 Gene CMT1E Genetic Test utilizes NGS (next-generation sequencing) technology to analyze multiple genes, including the PMP22 gene, for mutations associated with CMT1E. This test can provide a definitive diagnosis for individuals experiencing symptoms of the disease.
Symptoms
Symptoms of CMT1E can include:
- Weakness and atrophy in the muscles of the hands and feet
- Difficulty walking
- Loss of sensation in the limbs
- Foot deformities
These symptoms may vary in severity and develop gradually over time.
Diagnosis
Genetic testing for CMT1E can be beneficial for individuals with a family history of the disease or those experiencing symptoms consistent with the disorder. A positive test result can provide a definitive diagnosis, allowing for appropriate treatment and management options.
Test Name | PMP22 Gene CMT1E Genetic Test |
---|---|
Components | |
Price | 4400.0 AED |
Sample Condition | Blood or Extracted DNA or One drop Blood on FTA Card o |
Report Delivery | 3 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 PMP22 Gene CMT1E NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with PMP22 Gene CMT1E |
Test Details |
The PMP22 gene is associated with the inherited neurological disorder called Charcot-Marie-Tooth disease type 1E (CMT1E). This disease affects the peripheral nerves, which are responsible for transmitting signals from the brain and spinal cord to the muscles and sensory organs throughout the body. CMT1E is caused by mutations in the PMP22 gene, which is located on chromosome 17. NGS (next-generation sequencing) is a genetic testing method that allows for the analysis of multiple genes at once, including the PMP22 gene. This test can detect mutations in the PMP22 gene that are associated with CMT1E, providing a definitive diagnosis for individuals with symptoms of the disease. The symptoms of CMT1E can include weakness and atrophy in the muscles of the hands and feet, difficulty walking, loss of sensation in the limbs, and foot deformities. These symptoms can vary in severity and may develop gradually over time. Genetic testing for CMT1E can be helpful for individuals with a family history of the disease or those who are experiencing symptoms consistent with the disorder. A positive test result can provide a definitive diagnosis and help guide treatment and management options. |