NAGS Gene N-Acetylglutamate Synthase Deficiency NGS Genetic DNA Test
Introduction
The NAGS Gene N-Acetylglutamate Synthase Deficiency NGS Genetic DNA Test is a critical diagnostic tool for identifying genetic mutations associated with metabolic disorders. This test utilizes Next Generation Sequencing (NGS) technology to analyze the NAGS gene, which plays a vital role in the urea cycle, a crucial metabolic pathway for removing ammonia from the body. Understanding the functionality of this gene is essential for diagnosing conditions that can lead to severe health complications.
What the Test Measures
This genetic test measures the presence of mutations in the NAGS gene, which can lead to N-acetylglutamate synthase deficiency. This condition impairs the body’s ability to process ammonia, potentially resulting in toxic levels that can cause neurological damage and other serious health issues.
Who Should Consider This Test
Individuals who exhibit symptoms such as unexplained lethargy, vomiting, seizures, or developmental delays should consider this test. Additionally, those with a family history of metabolic disorders or known genetic mutations may benefit from testing to assess their risk.
Benefits of Taking the Test
- Early diagnosis of N-acetylglutamate synthase deficiency, which is crucial for effective management.
- Guidance for treatment options and dietary modifications to reduce ammonia levels.
- Informed family planning through genetic counseling and understanding of hereditary risks.
- Peace of mind for patients and families regarding their genetic health.
Understanding Your Results
Results from the NAGS Gene N-Acetylglutamate Synthase Deficiency NGS Genetic DNA Test will provide insight into the presence of specific genetic mutations. A healthcare professional will help interpret these results, discussing potential implications for health and necessary follow-up actions.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| NAGS Gene N-Acetylglutamate Synthase Deficiency NGS Genetic DNA Test | 400000 NGN | 560000 NGN |
Booking the Test
To book the NAGS Gene N-Acetylglutamate Synthase Deficiency NGS Genetic DNA Test, please contact us at +2348077798758 or visit our website for more information. Our team is ready to assist you with scheduling and any questions you may have.
Additional Information
Turnaround time for results is approximately 3 to 4 weeks. The sample type required for this test can be blood, extracted DNA, or one drop of blood on an FTA card. Prior to the test, a clinical history of the patient is required along with a genetic counseling session to create a pedigree chart of family members affected by N-acetylglutamate synthase deficiency.
For those seeking clarity on their metabolic health, the NAGS Gene N-Acetylglutamate Synthase Deficiency NGS Genetic DNA Test is an invaluable resource. Don’t wait—take control of your health today!
