PMP22 Gene CMT1E NGS Genetic DNA Test
Introduction to the PMP22 Gene CMT1E NGS Genetic DNA Test
The PMP22 Gene CMT1E NGS Genetic DNA Test is a crucial diagnostic tool designed to identify genetic mutations associated with Charcot-Marie-Tooth disease type 1E (CMT1E), a hereditary neurological disorder. This test utilizes Next Generation Sequencing (NGS) technology to provide accurate and comprehensive analysis of the PMP22 gene, which plays a significant role in the development and maintenance of peripheral nerves.
What the Test Measures
This genetic test specifically detects mutations in the PMP22 gene. These mutations can lead to demyelination of peripheral nerves, resulting in muscle weakness, sensory loss, and other neurological symptoms. By identifying these mutations, healthcare providers can better understand the underlying causes of neurological disorders in patients.
Who Should Consider This Test?
Patients who exhibit symptoms such as progressive muscle weakness, difficulty walking, or loss of sensation in the extremities should consider the PMP22 Gene CMT1E NGS Genetic DNA Test. Additionally, individuals with a family history of Charcot-Marie-Tooth disease or other hereditary neuropathies may also benefit from this test. Risk factors include:
- Family history of CMT or related neurological disorders
- Presence of symptoms indicative of peripheral nerve damage
Benefits of Taking the Test
Understanding the genetic basis of neurological disorders can significantly impact patient management and treatment options. The benefits of the PMP22 Gene CMT1E NGS Genetic DNA Test include:
- Accurate diagnosis of hereditary neuropathies
- Guidance for personalized treatment plans
- Informed family planning and genetic counseling
- Enhanced understanding of disease progression
Understanding Your Results
Once the test is completed, results will be analyzed and interpreted by a qualified healthcare professional. A positive result indicates the presence of a mutation in the PMP22 gene, while a negative result suggests no identified mutations. It is essential to discuss the results with your doctor to understand their implications fully.
Test Information and Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| PMP22 Gene CMT1E NGS Genetic DNA Test | 40,000 KSh | 56,000 KSh |
Book Your Test Today!
We have branches across Kenya, including major cities like Nairobi, Mombasa, and Kisumu, and also offer home sample collection services for your convenience. To book the PMP22 Gene CMT1E NGS Genetic DNA Test or for more information, please call or WhatsApp us at +254711564616.
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