COL4A4 Gene Alport Syndrome Autosomal Recessive NGS Genetic DNA Test
Comprehensive Genetic Testing for Alport Syndrome
The COL4A4 Gene Alport Syndrome Autosomal Recessive NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for inherited kidney disorders. This advanced testing methodology utilizes Next Generation Sequencing (NGS) technology to provide comprehensive analysis of the COL4A4 gene, which plays a critical role in maintaining the structural integrity of basement membranes throughout the body, particularly in the kidneys, ears, and eyes.
What Does This Test Measure?
This sophisticated genetic test specifically targets and analyzes the COL4A4 gene for mutations associated with autosomal recessive Alport syndrome. The test detects:
- Pathogenic variants and mutations in the COL4A4 gene
- Single nucleotide polymorphisms (SNPs) affecting collagen IV production
- Deletions, insertions, and missense mutations
- Genetic variations that disrupt basement membrane formation
- Inheritance patterns for family risk assessment
Who Should Consider This Test?
This genetic test is recommended for individuals experiencing:
- Unexplained hematuria (blood in urine)
- Progressive hearing loss, especially in childhood
- Family history of kidney disease or renal failure
- Ocular abnormalities including anterior lenticonus
- Proteinuria or abnormal kidney function tests
- Planning pregnancy with family history of Alport syndrome
Clinical Benefits of Genetic Testing
Early detection through COL4A4 genetic testing provides numerous advantages:
- Enables proactive monitoring and early intervention strategies
- Facilitates personalized treatment plans based on genetic profile
- Provides crucial information for family planning decisions
- Helps prevent progression to end-stage renal disease
- Reduces uncertainty and provides definitive diagnosis
- Supports genetic counseling for at-risk family members
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert genetic counselors:
- Positive Result: Indicates presence of pathogenic COL4A4 mutations confirming Alport syndrome diagnosis
- Negative Result: No detected mutations in COL4A4 gene, though other genetic causes may need investigation
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals who may pass the condition to offspring
Test Pricing Information
| Test Description | Price (USD) |
|---|---|
| COL4A4 Gene Alport Syndrome Autosomal Recessive NGS Genetic DNA Test – Discount Price | $500 |
| COL4A4 Gene Alport Syndrome Autosomal Recessive NGS Genetic DNA Test – Regular Price | $700 |
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, and San Jose. Our state-of-the-art genetic testing facilities ensure accurate and reliable results with a standard turnaround time of 3-4 weeks.
Take Control of Your Genetic Health
Don’t let uncertainty about your genetic health impact your future. Early detection of COL4A4 gene mutations can significantly improve long-term outcomes and quality of life. Our experienced genetic counselors are available to discuss your results and provide personalized guidance.
Ready to schedule your genetic test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic health and protecting your future.
