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PMP22 Gene CMT1E Genetic Test

Original price was: 5,600 د.إ.Current price is: 4,400 د.إ.

-21%

The PMP22 Gene CMT1E Genetic Test is a specialized diagnostic procedure aimed at identifying mutations in the PMP22 gene, which are associated with Charcot-Marie-Tooth disease type 1E (CMT1E). This condition is a form of hereditary neuropathy that affects the peripheral nerves, leading to muscle weakness and sensory problems. The test is particularly crucial for individuals displaying symptoms of CMT1E or those with a family history of the disease, as it can provide definitive genetic evidence of the condition.

Performed at DNA Labs UAE, a leading facility in genetic diagnostics, the test involves collecting a DNA sample, typically through a blood draw or a cheek swab, which is then analyzed for specific mutations in the PMP22 gene. The results from this test can help in making an accurate diagnosis, guiding treatment decisions, and offering genetic counseling for affected individuals and their families.

The cost of the PMP22 Gene CMT1E Genetic Test at DNA Labs UAE is set at 4400 AED. This price includes the full process of sample collection, genetic analysis, and the provision of a comprehensive report detailing the findings. Individuals considering this test are encouraged to consult with a healthcare provider or a genetic counselor to understand the implications of the results and the next steps in the management of the condition.

Home  Sample collection service available

  • 100% accuaret Test Results
  • Ranked as Most trusted Genetic DNA Lab
  • This test is not intended for medical diagnosis or treatment
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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.