SLC4A4 Gene Renal Tubular Acidosis Proximal with Ocular Abnormalities NGS Genetic DNA Test
Comprehensive Genetic Analysis for Kidney and Eye Disorders
The SLC4A4 Gene Renal Tubular Acidosis Proximal with Ocular Abnormalities NGS Genetic DNA Test represents a breakthrough in diagnostic precision for individuals affected by complex metabolic and ocular conditions. This sophisticated genetic test specifically targets mutations in the SLC4A4 gene, which plays a critical role in bicarbonate transport and maintenance of acid-base balance in the kidneys, as well as proper eye development and function.
What This Advanced Genetic Test Detects
Our comprehensive NGS-based analysis identifies pathogenic variants in the SLC4A4 gene that are responsible for:
- Proximal renal tubular acidosis (pRTA)
- Ocular abnormalities including band keratopathy and glaucoma
- Metabolic acidosis and electrolyte imbalances
- Growth retardation and developmental delays
- Autosomal recessive inheritance patterns
Who Should Consider This Genetic Test?
This specialized genetic analysis is recommended for individuals presenting with:
Clinical Symptoms and Indications
- Persistent metabolic acidosis with normal anion gap
- Growth failure or developmental delays in children
- Ocular symptoms including vision problems, corneal calcification, or glaucoma
- Family history of renal tubular disorders or inherited kidney diseases
- Unexplained electrolyte imbalances requiring frequent medical intervention
- Suspected genetic kidney disorders with ocular manifestations
Significant Benefits of Genetic Testing
Undergoing the SLC4A4 genetic test provides numerous advantages for patients and healthcare providers:
Diagnostic and Clinical Benefits
- Accurate Diagnosis: Confirms or rules out SLC4A4-related disorders with high precision
- Personalized Treatment: Enables targeted therapeutic approaches based on genetic findings
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates timely management to prevent complications
- Comprehensive Care: Supports multidisciplinary approach involving nephrology, ophthalmology, and genetics specialists
Understanding Your Test Results
Our comprehensive genetic report provides detailed interpretation of your results:
Result Interpretation Guidance
- Positive Result: Indicates presence of pathogenic SLC4A4 variants confirming diagnosis
- Negative Result: Suggests absence of tested mutations but doesn’t rule out other genetic causes
- Variant of Uncertain Significance: Requires additional clinical correlation and family studies
- Carrier Status: Identifies individuals who may pass the condition to offspring
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | SLC4A4 Gene Renal Tubular Acidosis Proximal with Ocular Abnormalities NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified genetic counselors and healthcare professionals ensures accessible, high-quality genetic testing services nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about your genetic health prevent you from receiving the care you deserve. Our experienced team of genetic specialists is ready to guide you through the testing process and provide comprehensive support from pre-test counseling to result interpretation.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take control of your health journey.
Book your SLC4A4 Genetic DNA Test now and benefit from our limited-time discount pricing of only $500 USD. Our dedicated patient coordinators will assist you with sample collection, insurance coordination, and all necessary arrangements to make your genetic testing experience seamless and stress-free.
