NPC1 Gene Niemann-Pick Disease Type C1 NGS Genetic DNA Test
Introduction
The NPC1 Gene Niemann-Pick Disease Type C1 NGS Genetic DNA Test is a comprehensive genetic test designed to identify mutations in the NPC1 gene, which are responsible for Niemann-Pick disease type C1. This rare genetic disorder primarily affects the nervous system, leading to severe neurological complications. Early diagnosis through this test is crucial for effective management and treatment options.
What the Test Measures
This test utilizes Next Generation Sequencing (NGS) technology to detect specific mutations in the NPC1 gene. By analyzing the genetic material, healthcare providers can determine if an individual carries the genetic markers associated with Niemann-Pick disease type C1.
Who Should Consider This Test?
This test is recommended for individuals who exhibit symptoms of Niemann-Pick disease, such as:
- Neurological decline
- Difficulty with coordination and movement
- Speech and language difficulties
- Seizures
Additionally, individuals with a family history of Niemann-Pick disease or other genetic disorders should consider this test for proactive health management.
Benefits of Taking the Test
- Early detection of Niemann-Pick disease type C1 allows for timely intervention.
- Informed family planning decisions can be made based on genetic counseling.
- Access to targeted therapies and supportive care options.
- Peace of mind for patients and families regarding genetic risks.
Understanding Your Results
Results from the NPC1 Gene Niemann-Pick Disease Type C1 NGS Genetic DNA Test will provide insights into the presence of mutations in the NPC1 gene. A genetic counseling session is recommended to help interpret the results and discuss potential implications for treatment and family health.
Test Pricing
| Test Name | Discount Price (KSh) | Regular Price (KSh) |
|---|---|---|
| NPC1 Gene Niemann-Pick Disease Type C1 NGS Genetic DNA Test | 40,000 | 56,000 |
Book Your Test Today!
We have branches across Kenya, including major cities like Nairobi, Mombasa, and Kisumu. We also offer home sample collection services for your convenience. Don’t wait—take the first step towards understanding your genetic health today!
For inquiries and to book your test, call or WhatsApp us at +254711564616.
Additional Information
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood or Extracted DNA or One drop Blood on FTA Card
Pre-Test Instructions: A clinical history of the patient is required, along with a genetic counseling session to draw a pedigree chart of family members affected with NPC1 Gene Niemann-Pick disease type C1.
Specialty: Neurology
Department: Genetics
Method: NGS Technology
Disease Type: Neurological Disorders
