NPC1 Gene Niemann-Pick Disease Type C1 NGS Genetic DNA Test
Introduction to the Test
The NPC1 Gene Niemann-Pick Disease Type C1 NGS Genetic DNA Test is a specialized genetic test designed to identify mutations in the NPC1 gene, which are responsible for Niemann-Pick disease type C1. This condition is a rare metabolic disorder that affects the body’s ability to metabolize lipids, leading to severe neurological and physical complications. Early diagnosis through this test can significantly impact management and treatment options, providing patients and families with vital information about their health.
What the Test Measures
This genetic test uses Next Generation Sequencing (NGS) technology to detect specific mutations in the NPC1 gene. By analyzing the DNA sample, the test can confirm the presence of these mutations, helping to diagnose Niemann-Pick disease type C1 accurately.
Who Should Consider This Test
Individuals who may benefit from the NPC1 Gene Niemann-Pick Disease Type C1 NGS Genetic DNA Test include:
- Those with a family history of Niemann-Pick disease type C1.
- Patients exhibiting symptoms such as developmental delays, neurological issues, or organ dysfunction.
- Individuals who have undergone genetic counseling and have been advised to pursue genetic testing.
Benefits of Taking the Test
Taking the NPC1 Gene Niemann-Pick Disease Type C1 NGS Genetic DNA Test offers several benefits:
- Accurate diagnosis of Niemann-Pick disease type C1.
- Informed decision-making regarding treatment and management.
- Understanding genetic risks for family members.
- Access to genetic counseling for better family planning.
Understanding Your Results
Results from the NPC1 Gene Niemann-Pick Disease Type C1 NGS Genetic DNA Test will help determine if mutations are present in the NPC1 gene. A genetic counselor will assist in interpreting the results, discussing potential implications for health and family members.
Test Pricing
| Test Name | Discount Price (NGN) | Regular Price (NGN) |
|---|---|---|
| NPC1 Gene Niemann-Pick Disease Type C1 NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Book Your Test Today!
To schedule your NPC1 Gene Niemann-Pick Disease Type C1 NGS Genetic DNA Test, please call or WhatsApp us at +2348077798758. Our team at DNA Labs Nigeria is here to assist you with any questions and to guide you through the testing process.
Pre-Test Instructions
Before undergoing the NPC1 Gene Niemann-Pick Disease Type C1 NGS Genetic DNA Test, it is essential to have a clinical history prepared. A genetic counseling session is recommended to draw a pedigree chart of family members affected by Niemann-Pick disease type C1.
Test Details
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood or Extracted DNA or One Drop Blood on FTA Card
Specialty: General Physician
Department: Genetics
Method: NGS Technology
Disease Type: Metabolic Disorders
