COL4A5 Gene Alport syndrome, X-Linked NGS Genetic Test
Short Name: Alport Syndrome Genetic Test
Also known as: Alport Syndrome Genetic Test, COL4A5 Mutation Test, X-linked Alport Syndrome Test
COL4A5 Gene Alport syndrome, X-Linked NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
To detect mutations in the COL4A5 gene for accurate diagnosis of X-linked Alport syndrome, enabling early treatment, monitoring, and genetic counseling.
- Test Code
- 2276
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 Weeks
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
Provide clinical history and undergo genetic counseling to draw a family pedigree chart. No specific preparation needed.
Method: Venipuncture or FTA card application
Laboratory Analysis
Blood sample collected via venipuncture or one drop on FTA card. Ensure proper labeling and handling.
Report Delivery
Sample transported at ambient room temperature. Await report within 3-4 weeks.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To detect mutations in the COL4A5 gene for accurate diagnosis of X-linked Alport syndrome, enabling early treatment, monitoring, and genetic counseling.
How to Prepare
- Avoid contamination during blood draw
- Use sterile equipment
- Label samples correctly with patient details
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early genetic testing for Alport syndrome aids in prognosis, treatment planning, and genetic counseling for affected families."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient sample volume
- Hemolyzed or clotted samples
- Incorrect labeling
Understanding Your Results
If symptoms such as hematuria, hearing loss, or vision problems appear, or with a family history of Alport syndrome.
Limitations
- ⚠May not detect all types of genetic variants (e.g., large deletions)
- ⚠Requires confirmation by additional methods in some cases
- ⚠Genetic counseling recommended for result interpretation
Risks & Considerations
- ●Minor bruising or pain at blood draw site
- ●Rare infection risk
Interfering Factors
- ●Sample contamination
- ●Degraded DNA quality
- ●Hemolyzed blood samples
Frequently Asked Questions
What is Alport syndrome?
How is Alport syndrome inherited?
What are the common symptoms of Alport syndrome?
How is Alport syndrome diagnosed?
What is NGS genetic testing for Alport syndrome?
What is the cost of the COL4A5 genetic test in India?
Is home sample collection available for this test?
How long does it take to get the results?
What sample is required for the test?
Is fasting required before the test?
Can females be tested for Alport syndrome?
What should I do if the test result is positive?
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