ATP6V1B1 Gene Renal Tubular Acidosis with Deafness NGS Genetic DNA Test
Introduction
The ATP6V1B1 Gene Renal Tubular Acidosis with Deafness NGS Genetic DNA Test is a specialized diagnostic tool used to identify genetic mutations associated with renal tubular acidosis (RTA) and hearing impairment. This test plays a crucial role in understanding the genetic basis of these conditions, allowing for early diagnosis and management strategies tailored to individual patients.
What the Test Measures
This genetic test specifically analyzes the ATP6V1B1 gene, which is vital in the regulation of renal acid-base balance. By utilizing Next-Generation Sequencing (NGS) technology, the test detects mutations that may lead to renal tubular acidosis, a condition characterized by the kidneys’ inability to adequately excrete acids into the urine, resulting in a systemic acid-base imbalance.
Who Should Consider This Test
Individuals who should consider undergoing the ATP6V1B1 Gene test include:
- Patients exhibiting symptoms of renal tubular acidosis, such as metabolic acidosis, growth retardation, and bone disease.
- Individuals with a family history of hearing loss and renal issues.
- Patients with unexplained kidney dysfunction and deafness.
Benefits of Taking the Test
Taking the ATP6V1B1 Gene test offers numerous benefits, including:
- Accurate diagnosis of genetic conditions, enabling targeted treatment plans.
- Understanding of hereditary risks for family members.
- Informed decision-making regarding health management and lifestyle choices.
- Access to genetic counseling for better understanding and support.
Understanding Your Results
Upon receiving your test results, it is essential to consult with a healthcare professional to interpret the findings accurately. Your doctor will explain the implications of any identified mutations and discuss potential management options tailored to your specific needs.
Test Pricing
Test Name | Discount Price | Regular Price |
---|---|---|
ATP6V1B1 Gene Renal Tubular Acidosis with Deafness NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Book the Test
To book your ATP6V1B1 Gene Renal Tubular Acidosis with Deafness NGS Genetic DNA Test, please contact us at +2348110567037. Our team is ready to assist you with any questions and guide you through the booking process.
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 the ATP6V1B1 gene.
Specialty: General Physician
Department: Genetics
Method: NGS Technology
Disease Type: Hepatology, Nephrology, Endocrinology Disorders