CA5A Gene Hyperammonemia Due To Carbonic Anhydrase VA Deficiency NGS Genetic DNA Test
Introduction
The CA5A Gene Hyperammonemia due to carbonic anhydrase VA deficiency NGS Genetic DNA Test is a vital diagnostic tool designed to identify genetic predispositions to metabolic disorders. This test utilizes Next Generation Sequencing (NGS) technology to provide accurate and comprehensive insights into the genetic factors that contribute to hyperammonemia, a serious condition characterized by elevated levels of ammonia in the bloodstream.
What the Test Measures
This genetic test specifically measures mutations in the CA5A gene, which is responsible for producing the enzyme carbonic anhydrase VA. Deficiencies in this enzyme can lead to metabolic disturbances, particularly hyperammonemia, which can have severe neurological consequences if left untreated.
Who Should Consider This Test
This test is recommended for individuals who exhibit symptoms of hyperammonemia, such as:
- Unexplained lethargy
- Neurological disturbances
- Seizures
- Developmental delays in children
Additionally, those with a family history of metabolic disorders or who have been diagnosed with related conditions should consider this test as part of their health management plan.
Benefits of Taking the Test
- Early detection of genetic disorders allows for timely intervention and management.
- Informs treatment options and dietary modifications to prevent complications.
- Provides valuable information for family planning and genetic counseling.
- Enhances understanding of personal health risks associated with metabolic disorders.
Understanding Your Results
Upon completion of the test, results will be interpreted by qualified genetic counselors. They will provide insights into the implications of the findings and guide you on the next steps, including potential treatment options and lifestyle adjustments.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| CA5A Gene Hyperammonemia NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Book Your Test Today!
To take control of your health and gain insights into your genetic predispositions, book the CA5A Gene Hyperammonemia due to carbonic anhydrase VA deficiency NGS Genetic DNA Test today! Contact us at +2348077798758 or visit our website to schedule your appointment.
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 hyperammonemia due to carbonic anhydrase VA deficiency.
Specialty: General Physician | Department: Genetics | Method: NGS Technology | Disease Type: Metabolic Disorders
