COL4A5 Gene Alport Syndrome X-Linked NGS Genetic DNA Test
Comprehensive Genetic Testing for Inherited Kidney Disorders
The COL4A5 Gene Alport Syndrome X-Linked NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for inherited kidney diseases. This advanced testing method specifically targets mutations in the COL4A5 gene, which plays a critical role in maintaining the structural integrity of basement membranes in the kidneys, ears, and eyes. Alport syndrome is a progressive genetic condition that primarily affects kidney function but can also involve hearing loss and eye abnormalities.
What This Test Measures and Detects
Our comprehensive NGS-based genetic test specifically analyzes the COL4A5 gene for:
- Point mutations and single nucleotide variants
- Small insertions and deletions (indels)
- Copy number variations
- Splice site mutations
- Missense, nonsense, and frameshift mutations
The test utilizes state-of-the-art Next-Generation Sequencing technology to provide comprehensive coverage of the entire COL4A5 gene coding region, ensuring high accuracy and reliability in mutation detection.
Who Should Consider This Test
This genetic test is recommended for individuals experiencing:
- Persistent microscopic or gross hematuria (blood in urine)
- Progressive hearing loss, especially in childhood or young adulthood
- Family history of kidney disease or Alport syndrome
- Unexplained proteinuria or kidney dysfunction
- Anterior lenticonus or retinal abnormalities
- Women with hematuria and family history of kidney failure
- Individuals planning family with known family history of Alport syndrome
Key Benefits of Genetic Testing
Early detection through COL4A5 genetic testing provides numerous advantages:
- Early Intervention: Enables proactive management before significant kidney damage occurs
- Accurate Diagnosis: Provides definitive diagnosis when clinical symptoms are ambiguous
- Family Planning: Offers crucial information for genetic counseling and reproductive decisions
- Personalized Treatment: Guides targeted therapeutic approaches based on genetic profile
- Prognostic Information: Helps predict disease progression and potential complications
- Cost-Effective Monitoring: Reduces unnecessary testing through precise diagnosis
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your results:
- Positive Result: Indicates presence of pathogenic mutation in COL4A5 gene, confirming diagnosis of X-linked Alport syndrome
- Negative Result: Suggests absence of detectable mutations, though clinical follow-up may still be recommended
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: For female patients, identifies carrier status which may have implications for offspring
All results include detailed explanations and recommendations for next steps, including consultation with nephrologists and genetic counselors.
Test Pricing and Details
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
Nationwide Testing Availability
We have convenient testing locations across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified collection centers ensures accessible testing for patients nationwide.
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation
- Genetic counseling session to create detailed family pedigree
- Understanding of test implications and potential outcomes
- Insurance pre-authorization if applicable
Take Control of Your Genetic Health Today
Don’t wait to get the answers you need about your genetic health. Early detection of COL4A5 mutations can significantly impact treatment outcomes and quality of life. Our team of genetic specialists and nephrologists are ready to support you through every step of the testing process.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your COL4A5 Gene Alport Syndrome X-Linked NGS Genetic DNA Test and take the first step toward personalized healthcare management.
