NAGS Gene N-Acetylglutamate Synthase Deficiency NGS Genetic DNA Test
Introduction
The NAGS Gene N-Acetylglutamate Synthase Deficiency NGS Genetic DNA Test is a vital diagnostic tool for identifying metabolic disorders associated with N-acetylglutamate synthase deficiency. This condition can lead to severe health complications if left undiagnosed and untreated. The test employs Next-Generation Sequencing (NGS) technology to analyze the NAGS gene, ensuring precise detection of genetic mutations.
What the Test Measures
This genetic test detects mutations in the NAGS gene that may lead to a deficiency in N-acetylglutamate synthase, a critical enzyme in the urea cycle. This enzyme deficiency can result in elevated ammonia levels in the blood, which is toxic and can cause neurological damage.
Who Should Consider This Test
The NAGS Gene N-Acetylglutamate Synthase Deficiency NGS Genetic DNA Test is recommended for individuals who exhibit symptoms such as:
- Severe metabolic acidosis
- Neurological impairment
- Unexplained lethargy or coma
- Family history of metabolic disorders
Additionally, those with a clinical history indicating potential metabolic dysfunction should consider undergoing this test.
Benefits of Taking the Test
- Early diagnosis of N-acetylglutamate synthase deficiency can lead to timely interventions.
- Helps in understanding the genetic basis of metabolic disorders.
- Guides treatment options and dietary management strategies.
- Provides important information for family planning and genetic counseling.
Understanding Your Results
Results from the NAGS Gene N-Acetylglutamate Synthase Deficiency NGS Genetic DNA Test will typically be available within 3 to 4 weeks. A genetic counselor or healthcare provider will help interpret the results, discussing the implications of any detected genetic mutations and potential treatment pathways.
Test Pricing
Test Name | Discount Price | Regular Price |
---|---|---|
NAGS Gene N-Acetylglutamate Synthase Deficiency NGS Genetic DNA Test | 40000 KSh | 56000 KSh |
Book Your Test Today!
We have branches across Kenya, including Nairobi, Mombasa, and Kisumu, and offer home sample collection services for your convenience. To schedule your NAGS Gene N-Acetylglutamate Synthase Deficiency NGS Genetic DNA Test, please call or WhatsApp us at +254711564616.