COL4A4 Gene Alport Syndrome Autosomal Recessive NGS Genetic DNA Test
Comprehensive Genetic Testing for Inherited Kidney Disease
The COL4A4 Gene Alport Syndrome Autosomal Recessive NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for inherited kidney disorders. This advanced testing method provides crucial insights into one of the most significant genetic causes of progressive kidney disease, enabling early intervention and personalized treatment strategies.
What is COL4A4 Gene Alport Syndrome?
Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. The COL4A4 gene plays a critical role in producing type IV collagen, a essential structural protein in the glomerular basement membrane of the kidneys. When mutations occur in the COL4A4 gene in an autosomal recessive pattern, it leads to progressive kidney damage, sensorineural hearing loss, and potential vision problems.
What This Test Detects
Our comprehensive NGS genetic test specifically identifies:
- Pathogenic variants in the COL4A4 gene associated with autosomal recessive inheritance
- Single nucleotide variants (SNVs) and small insertions/deletions (indels)
- Copy number variations (CNVs) affecting the COL4A4 gene
- Novel mutations that may not be documented in existing databases
- Carrier status for family planning purposes
Who Should Consider This Test?
Clinical Indications and Symptoms
This genetic test is recommended for individuals experiencing:
- Persistent hematuria (blood in urine) without apparent cause
- Progressive hearing loss, particularly in childhood or early adulthood
- Family history of kidney disease or Alport syndrome
- Unexplained proteinuria or declining kidney function
- Anterior lenticonus or retinal abnormalities
- Planning pregnancy with family history of kidney disorders
Benefits of COL4A4 Genetic Testing
Early Intervention and Management
Undergoing COL4A4 genetic testing provides numerous advantages:
- Early Diagnosis: Identify the condition before significant kidney damage occurs
- Personalized Treatment: Tailor medical management based on genetic findings
- Family Planning: Make informed reproductive decisions with genetic counseling
- Proactive Monitoring: Implement regular kidney function and hearing assessments
- Preventive Care: Initiate ACE inhibitor therapy to slow disease progression
- Psychological Relief: Reduce uncertainty and anxiety through definitive diagnosis
Understanding Your Test Results
Interpretation and Next Steps
Your genetic test results will fall into one of several categories:
- Positive Result: Identified pathogenic variant confirms Alport syndrome diagnosis. Requires comprehensive management with nephrology, audiology, and ophthalmology specialists.
- Negative Result: No pathogenic variants detected, significantly reducing likelihood of autosomal recessive Alport syndrome.
- Variant of Uncertain Significance (VUS): Genetic change identified with unknown clinical impact. May require family studies for clarification.
- Carrier Status: Identified as carrying one copy of mutated gene without disease manifestation.
All results include detailed interpretation by our certified genetic counselors and recommendations for appropriate follow-up care.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | COL4A4 Gene Alport Syndrome Autosomal Recessive 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 |
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation
- Genetic counseling session to create family pedigree chart
- Discussion of testing implications with healthcare provider
- Understanding of insurance coverage and out-of-pocket costs
Nationwide Testing Availability
We proudly offer COL4A4 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 consistent, high-quality results regardless of collection location.
Take Control of Your Genetic Health
Early detection of COL4A4 gene mutations can significantly impact disease management and quality of life. Our comprehensive genetic testing provides the clarity needed for informed medical decisions and proactive healthcare planning.
Ready to schedule your COL4A4 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 kidney function for years to come.
