CA5A Gene Hyperammonemia Due to Carbonic Anhydrase VA Deficiency NGS Genetic DNA Test
Introduction to the Test
The CA5A Gene Hyperammonemia due to carbonic anhydrase VA deficiency NGS Genetic DNA Test is a crucial diagnostic tool designed to identify genetic mutations associated with hyperammonemia—a condition characterized by elevated ammonia levels in the blood. This test employs Next Generation Sequencing (NGS) technology, allowing for comprehensive analysis of the CA5A gene, which plays a vital role in metabolic processes.
What the Test Measures
This genetic test specifically measures mutations in the CA5A gene, which are responsible for carbonic anhydrase VA deficiency. By detecting these mutations, healthcare providers can determine the underlying cause of hyperammonemia and implement appropriate treatment strategies.
Who Should Consider This Test
Individuals who may benefit from the CA5A Gene Hyperammonemia Test include:
- Patients presenting with symptoms of hyperammonemia such as lethargy, vomiting, or neurological disturbances.
- Individuals with a family history of metabolic disorders or unexplained neurological symptoms.
- Those who have undergone previous testing for metabolic conditions without conclusive results.
Benefits of Taking the Test
Taking the CA5A Gene Hyperammonemia Test offers several benefits:
- Accurate Diagnosis: Helps in identifying genetic causes of hyperammonemia, leading to better-targeted therapies.
- Informed Decision-Making: Enables patients and families to make informed health decisions based on genetic risks.
- Preventive Measures: Allows for early intervention and management strategies to mitigate health risks associated with metabolic disorders.
Understanding Your Results
Results from the CA5A Gene Hyperammonemia Test will indicate whether mutations are present in the CA5A gene. A genetic counseling session is recommended to interpret the results and understand their implications for you and your family. This session will help in drawing a pedigree chart of affected family members, providing a clearer picture of genetic risks.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| CA5A Gene Hyperammonemia Test | 40,000 KSh | 56,000 KSh |
Book Your Test Today
We have branches across major cities in Kenya and offer home sample collection services for your convenience. Don’t wait—take control of your health today! To schedule your test, please call or WhatsApp us at +254711564616.
Test 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 and a Genetic Counseling session is required to draw a pedigree chart of family members affected with Hyperammonemia due to carbonic anhydrase VA deficiency.
