ATP6V0A4 Gene Renal Tubular Acidosis Distal Autosomal Recessive NGS Genetic DNA Test
Comprehensive Genetic Analysis for Inherited Kidney Disorders
The ATP6V0A4 Gene Renal Tubular Acidosis Distal Autosomal Recessive NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for inherited kidney conditions. This advanced genetic screening utilizes next-generation sequencing technology to identify specific mutations in the ATP6V0A4 gene, which plays a crucial role in maintaining proper acid-base balance within the body. Understanding your genetic predisposition to renal tubular acidosis can significantly impact treatment outcomes and long-term health management.
What This Test Measures and Detects
Our sophisticated NGS-based analysis specifically targets the ATP6V0A4 gene, which encodes a vital subunit of the vacuolar H+-ATPase proton pump. This enzyme complex is essential for proper acid secretion in the distal nephron of the kidneys. The test identifies:
- Pathogenic variants and mutations in the ATP6V0A4 gene
- Autosomal recessive inheritance patterns
- Specific nucleotide changes affecting proton pump function
- Genetic markers associated with impaired urinary acidification
- Variants linked to sensorineural hearing loss in some cases
Who Should Consider This Genetic Test
This comprehensive genetic analysis is recommended for individuals presenting with symptoms or family history suggestive of distal renal tubular acidosis:
- Patients with unexplained metabolic acidosis and normal anion gap
- Individuals experiencing growth retardation in childhood
- Patients with recurrent kidney stones or nephrocalcinosis
- Those with hypokalemia and muscle weakness
- Individuals with polyuria and polydipsia without diabetes
- Patients with sensorineural hearing loss of unknown origin
- Family members of individuals diagnosed with ATP6V0A4 mutations
- Couples planning pregnancy with family history of renal tubular acidosis
Significant Benefits of Genetic Testing
Undergoing the ATP6V0A4 genetic test provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Confirms or rules out genetic causes of renal tubular acidosis
- Personalized Treatment: Enables targeted alkali therapy and electrolyte management
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates proactive management to prevent complications
- Comprehensive Care: Guides multidisciplinary approach involving nephrology, endocrinology, and genetics specialists
- Peace of Mind: Reduces diagnostic uncertainty and provides clear direction for management
Understanding Your Test Results
Our genetic counseling team provides comprehensive interpretation of your ATP6V0A4 test results:
- Positive Result: Indicates presence of pathogenic mutations confirming diagnosis of autosomal recessive distal renal tubular acidosis
- Negative Result: Suggests absence of detected ATP6V0A4 mutations, though other genetic or acquired causes should be considered
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals with one mutated copy who may pass the condition to offspring
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York City, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, Austin, Jacksonville, Fort Worth, Columbus, Charlotte, San Francisco, Indianapolis, Seattle, Denver, Washington DC, Boston, El Paso, Nashville, Detroit, Oklahoma City, Portland, Las Vegas, Memphis, Louisville, Baltimore, and Milwaukee. Our network of certified genetic counselors and phlebotomy centers ensures accessible testing for patients nationwide.
Take Control of Your Genetic Health Today
Don’t let uncertainty about inherited kidney conditions affect your quality of life. Our ATP6V0A4 genetic test provides the clarity needed for effective management of renal tubular acidosis. With results available in 3-4 weeks and multiple sample collection options including blood, extracted DNA, or FTA card blood spots, getting tested has never been more convenient.
Call or WhatsApp our genetic specialists today at +1(267) 388-9828 to schedule your comprehensive genetic evaluation. Our team is ready to answer your questions, provide pre-test genetic counseling, and help you take the next step toward understanding your genetic health.
