COL4A3 Gene Alport Syndrome Autosomal Recessive NGS Genetic DNA Test
Comprehensive Genetic Testing for Alport Syndrome
The COL4A3 Gene Alport Syndrome Autosomal Recessive NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for inherited kidney disorders. This sophisticated test specifically targets mutations in the COL4A3 gene, which plays a crucial role in the structural integrity of basement membranes throughout the body, particularly in the kidneys, ears, and eyes.
What This Test Measures and Detects
Our advanced NGS genetic testing platform meticulously analyzes the COL4A3 gene to identify:
- Pathogenic variants responsible for autosomal recessive Alport syndrome
- Missense, nonsense, and frameshift mutations affecting collagen IV production
- Genetic alterations that disrupt glomerular basement membrane structure
- Inheritance patterns crucial for family planning decisions
- Specific mutation types that may influence disease progression and treatment response
Who Should Consider This Genetic Test
This comprehensive genetic evaluation is recommended for individuals experiencing:
- Unexplained hematuria (blood in urine) or proteinuria
- Progressive hearing loss, particularly in childhood or young adulthood
- Family history of kidney disease or Alport syndrome
- Anterior lenticonus or retinal abnormalities
- Unexplained end-stage renal disease in family members
- Planning pregnancy with known family history of collagen IV disorders
Significant Benefits of Genetic Testing
Undergoing COL4A3 genetic testing provides numerous advantages:
- Early Diagnosis: Enables proactive management before significant kidney damage occurs
- Personalized Treatment: Guides targeted therapeutic approaches based on specific mutation types
- Family Planning: Provides crucial information for reproductive decisions and genetic counseling
- Disease Monitoring: Establishes baseline for ongoing kidney function surveillance
- Peace of Mind: Reduces uncertainty and enables informed healthcare decisions
Understanding Your Test Results
Our comprehensive genetic report includes detailed interpretation of your results:
- Positive Result: Indicates presence of pathogenic COL4A3 mutations requiring specialized nephrology care
- Negative Result: Suggests low probability of autosomal recessive Alport syndrome
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals who may pass the condition to offspring
All results are accompanied by detailed genetic counseling to ensure complete understanding and appropriate next steps.
Test Pricing Information
| Test Description | Price (USD) |
|---|---|
| COL4A3 Gene Alport Syndrome Autosomal Recessive NGS Genetic DNA Test – Discount Price | $500 |
| COL4A3 Gene Alport Syndrome Autosomal Recessive NGS Genetic DNA Test – Regular Price | $700 |
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services across the United States, with convenient locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more cities. Our network of certified genetic counselors and medical professionals ensures accessible, high-quality care regardless of your location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about inherited kidney conditions affect your quality of life. Our COL4A3 genetic testing provides the clarity needed for informed medical decisions and proactive health management. 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.
Ready to schedule your genetic test? Call our dedicated genetic counseling team at +1(267) 388-9828 or book your appointment online today. Take the first step toward understanding your genetic health and protecting your kidney function for years to come.
