PMP22 Gene CMT1A NGS Genetic DNA Test
Introduction to the PMP22 Gene CMT1A NGS Genetic DNA Test
The PMP22 Gene CMT1A NGS Genetic DNA Test is a cutting-edge diagnostic tool designed to detect mutations in the PMP22 gene, which are responsible for Charcot-Marie-Tooth disease type 1A (CMT1A). This genetic disorder affects the peripheral nerves, leading to muscle weakness and sensory loss. Early detection through this test is vital for effective management and treatment of the condition.
What the Test Measures
This test employs Next Generation Sequencing (NGS) technology to analyze the PMP22 gene. It identifies specific genetic mutations that can confirm a diagnosis of CMT1A, enabling healthcare providers to tailor treatment plans for affected individuals.
Who Should Consider This Test
Individuals experiencing symptoms such as:
- Muscle weakness
- Decreased sensation in the limbs
- Foot drop or difficulty walking
- Family history of neurological disorders
should consider undergoing the PMP22 Gene CMT1A NGS Genetic DNA Test. This test is particularly recommended for those with a clinical history suggestive of CMT, as well as for family members of diagnosed patients.
Benefits of Taking the Test
Taking the PMP22 Gene CMT1A NGS Genetic DNA Test offers several benefits:
- Accurate diagnosis of CMT1A, leading to appropriate management strategies.
- Informed family planning, as genetic counseling can be provided based on results.
- Access to targeted therapies and support for managing symptoms.
Understanding Your Results
Results from the PMP22 Gene CMT1A NGS Genetic DNA Test will indicate whether a mutation is present in the PMP22 gene. A positive result confirms the diagnosis of CMT1A, while a negative result may suggest other causes for the symptoms. It is essential to discuss results with a healthcare provider for comprehensive understanding and guidance.
Pricing Information
| Test Name | Discount Price (KSh) | Regular Price (KSh) |
|---|---|---|
| PMP22 Gene CMT1A NGS Genetic DNA Test | 40,000 | 56,000 |
Sample Type and Turnaround Time
The test requires a sample of blood or extracted DNA, or even one drop of blood on an FTA card. Results are typically available within 3 to 4 weeks.
Pre-Test Instructions
Before taking the PMP22 Gene CMT1A NGS Genetic DNA Test, patients are advised to undergo a genetic counseling session, which includes drawing a pedigree chart of family members affected by the disease.
Book Your Test Today!
DNA Labs Kenya has branches across major cities including Nairobi, Mombasa, and Kisumu, and we offer home sample collection services for your convenience. To book the PMP22 Gene CMT1A NGS Genetic DNA Test, please call or WhatsApp us at +254711564616.
