ATP6V0A4 Gene Renal Tubular Acidosis Distal Autosomal Recessive NGS Genetic DNA Test
Introduction
The ATP6V0A4 Gene Renal Tubular Acidosis Distal Autosomal Recessive NGS Genetic DNA Test is a specialized genetic test designed to identify mutations in the ATP6V0A4 gene, which are linked to renal tubular acidosis (RTA). This condition affects the kidneys’ ability to properly acidify urine, leading to a range of metabolic complications. Understanding genetic factors is essential for accurate diagnosis and management of this disorder.
What the Test Measures
This test detects specific mutations in the ATP6V0A4 gene, which can cause distal renal tubular acidosis. By employing Next Generation Sequencing (NGS) technology, the test provides comprehensive insights into the genetic basis of the disorder, facilitating targeted treatment approaches.
Who Should Consider This Test
Individuals experiencing symptoms such as:
- Recurrent kidney stones
- Growth retardation in children
- Metabolic acidosis
- Weakness and fatigue
Additionally, those with a family history of renal tubular acidosis or related conditions may benefit from this test.
Benefits of Taking the Test
- Accurate diagnosis of genetic causes of renal tubular acidosis.
- Guidance for effective management and treatment options.
- Informed family planning through understanding hereditary risks.
- Access to specialized care and genetic counseling.
Understanding Your Results
Results from the ATP6V0A4 Gene test will be interpreted by qualified genetic counselors and physicians. A positive result indicates the presence of a mutation, while a negative result suggests that no mutation was detected. It is important to discuss findings with your healthcare provider to understand their implications fully.
Test Pricing
| Discount Price | Regular Price |
|---|---|
| 40,000 KSh | 56,000 KSh |
Book Your Test Today!
We have branches across Kenya, including Nairobi, Mombasa, and Kisumu. For your convenience, we also offer home sample collection services. To book the ATP6V0A4 Gene Renal Tubular Acidosis Distal Autosomal Recessive NGS Genetic DNA Test, please call or WhatsApp us at +254711564616.
Additional Information
Turnaround time for results is typically 3 to 4 weeks. The sample required may include blood or extracted DNA, or one drop of blood on an FTA card. Pre-test instructions include a clinical history of the patient and a genetic counseling session to draw a pedigree chart of affected family members.
This test falls under the specialties of General Physician and Genetics, addressing disorders related to Hepatology, Nephrology, and Endocrinology.
