NPC2 Gene Niemann-Pick Disease Type C2 NGS Genetic DNA Test
Introduction to the Test
The NPC2 Gene Niemann-Pick Disease Type C2 NGS Genetic DNA Test is a sophisticated diagnostic tool designed to detect mutations in the NPC2 gene, which are associated with Niemann-Pick Disease Type C2. This condition is a rare metabolic disorder that affects lipid metabolism, leading to severe neurological issues and organ dysfunction. Early detection through this genetic test is vital for managing the disease effectively.
What the Test Measures
This test specifically measures the presence of mutations in the NPC2 gene. By analyzing the genetic material, clinicians can identify whether an individual carries these mutations, which may predispose them to Niemann-Pick Disease Type C2.
Who Should Consider This Test?
Individuals who should consider this test include:
- Those with a family history of Niemann-Pick Disease Type C2.
- Patients exhibiting symptoms such as neurological decline, organ enlargement, or developmental delays.
- Individuals with risk factors related to metabolic disorders.
Benefits of Taking the Test
Taking the NPC2 Gene Niemann-Pick Disease Type C2 NGS Genetic DNA Test offers several benefits:
- Early detection of genetic mutations, allowing for timely intervention.
- Informed family planning and genetic counseling for at-risk families.
- Better understanding of the disease course, leading to improved management strategies.
- Access to clinical trials and specialized treatments for affected individuals.
Understanding Your Results
Results from the NPC2 Gene Niemann-Pick Disease Type C2 NGS Genetic DNA Test will indicate whether mutations are present. A positive result may suggest a higher risk for developing Niemann-Pick Disease Type C2, while a negative result may provide reassurance. It is essential to discuss your results with a healthcare professional who can provide guidance on the next steps.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| NPC2 Gene Niemann-Pick Disease Type C2 NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Book Your Test Today!
To schedule your NPC2 Gene Niemann-Pick Disease Type C2 NGS Genetic DNA Test, please contact us at +2348077798758 or visit our website. Our team of experts is ready to assist you with the booking process and any inquiries you may have.
Test Details
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood or Extracted DNA or One drop Blood on FTA Card
- Pre-Test Instructions: Clinical History of Patient who is going for NPC2 Gene Niemann-Pick Disease Type C2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with Niemann-Pick Disease Type C2.
- Specialty: General Physician
- Department: Genetics
- Method: NGS Technology
- Disease Type: Metabolic Disorders
