Notch2 Gene Alagille Syndrome Type 2 NGS Genetic DNA Test
Introduction to the Test
The Notch2 Gene Alagille Syndrome Type 2 NGS Genetic DNA Test is a specialized genetic test designed to detect mutations in the NOTCH2 gene, which are associated with Alagille syndrome. This condition is a complex genetic disorder that affects multiple systems in the body, particularly the liver, heart, and skeletal system. Early diagnosis through this test is crucial for effective management and treatment of the syndrome.
What the Test Measures
This test specifically measures the presence of mutations in the NOTCH2 gene. By employing Next Generation Sequencing (NGS) technology, it provides a comprehensive analysis of the genetic material, allowing for the identification of specific genetic alterations that may contribute to the development of Alagille syndrome.
Who Should Consider This Test?
The Notch2 Gene Alagille Syndrome Type 2 NGS Genetic DNA Test is recommended for individuals who exhibit symptoms associated with Alagille syndrome, including:
- Cholestasis (bile flow obstruction)
- Congenital heart defects
- Facial dysmorphism
- Vertebral anomalies
Additionally, family members of affected individuals may also consider testing, especially if there is a known history of the syndrome.
Benefits of Taking the Test
- Accurate diagnosis of Alagille syndrome.
- Informed decision-making regarding treatment options.
- Identification of at-risk family members.
- Access to genetic counseling for better understanding and management.
Understanding Your Results
Results from the Notch2 Gene Alagille Syndrome Type 2 NGS Genetic DNA Test will be provided in a detailed report. It is essential to discuss these results with a healthcare professional who can help interpret them and guide further management. A positive result may indicate the presence of a mutation linked to Alagille syndrome, while a negative result may provide reassurance regarding the absence of the disorder.
Test Pricing
| Test Name | Discount Price (NGN) | Regular Price (NGN) |
|---|---|---|
| Notch2 Gene Alagille Syndrome Type 2 NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
How to Book the Test
To book the Notch2 Gene Alagille Syndrome Type 2 NGS Genetic DNA Test, please contact us at +2348110567037. Our team is ready to assist you with scheduling your appointment and answering any questions you may have. Don’t wait, take the first step towards understanding your health today!
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 by the NOTCH2 gene.
For more information on our services or to learn about other tests available, please explore our website or reach out to our support team.
