COL4A3 Gene Alport Syndrome Autosomal Recessive NGS Genetic DNA Test
Comprehensive Genetic Testing for Inherited Kidney Disease
The COL4A3 Gene Alport Syndrome Autosomal Recessive NGS Genetic DNA Test represents a breakthrough in precision medicine for diagnosing inherited kidney disorders. This advanced genetic analysis specifically targets mutations in the COL4A3 gene, which encodes type IV collagen alpha-3 chain – a critical structural component of basement membranes in kidneys, ears, and eyes. Early detection through this test can significantly impact patient outcomes by enabling proactive management strategies.
What Does This Test Measure?
Our sophisticated NGS-based test comprehensively analyzes the COL4A3 gene to identify pathogenic variants associated with autosomal recessive Alport syndrome. The test detects:
- Missense, nonsense, and frameshift mutations in COL4A3 gene
- Small deletions and insertions affecting collagen IV synthesis
- Splice site variants that disrupt proper protein formation
- Copy number variations impacting gene function
- Novel genetic alterations previously unidentified
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with:
- Persistent microscopic or gross hematuria (blood in urine)
- Family history of Alport syndrome or inherited kidney disease
- Progressive sensorineural hearing loss, especially in childhood
- Anterior lenticonus or retinal abnormalities
- Unexplained proteinuria or declining kidney function
- Consanguineous parents with kidney disorder history
- Planning pregnancy with family history of collagen IV disorders
Clinical Benefits of Genetic Testing
Early genetic diagnosis through COL4A3 testing provides numerous advantages:
- Precise Diagnosis: Differentiates Alport syndrome from other glomerular diseases
- Proactive Management: Enables early intervention to slow kidney disease progression
- Family Planning: Provides crucial information for reproductive decisions
- Personalized Treatment: Guides targeted therapeutic approaches
- Risk Assessment: Identifies at-risk family members for preventive care
- Monitoring Strategy: Establishes baseline for ongoing clinical surveillance
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of findings:
- Positive Result: Identifies pathogenic COL4A3 mutation confirming autosomal recessive Alport syndrome diagnosis
- Negative Result: No disease-causing variants detected, though clinical correlation remains essential
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical evaluation
- Carrier Status: Detects individuals with single mutation who may pass condition to offspring
All results include detailed clinical implications and recommendations for follow-up care with genetics specialists and nephrologists.
Test Pricing Information
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We provide comprehensive genetic testing services across the United States with convenient locations in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art laboratories ensure accurate and reliable results with a turnaround time of 3-4 weeks.
Take Control of Your Genetic Health
Don’t wait to understand your genetic risk for Alport syndrome. Early detection through COL4A3 genetic testing can significantly impact your long-term health outcomes and provide valuable information for your entire family. Our genetic counselors are available to discuss testing options and answer your questions.
Book your COL4A3 Gene Alport Syndrome Autosomal Recessive NGS Genetic DNA Test today by calling +1(267) 388-9828 or schedule your appointment online. Take the first step toward personalized genetic healthcare and informed medical decision-making.
