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DNA Labs India

COL4A5 Gene Alport syndrome, X-Linked NGS Genetic Test

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COL4A5 Gene Alport syndrome, X-Linked NGS Genetic Test

Short Name: COL4A5 NGS Test

Also known as: COL4A5 mutation test, X-linked Alport syndrome genetic test, Alport syndrome DNA 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.

NGS Genetic Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

To identify mutations in the COL4A5 gene for the diagnosis of Alport syndrome, guiding treatment and genetic counseling.

Test Code
5367
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)
Step 1

Sample Collection

No special preparation required. Provide clinical history and family pedigree.

Method: Venipuncture or finger prick

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or finger prick for FTA card.

Step 3

Report Delivery

Apply pressure to the puncture site. Resume normal activities.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor to understand the test and implications.
2
During the Test:The test involves sequencing the COL4A5 gene using NGS technology.
3
After the Test:Review results with a healthcare professional and discuss next steps.

About This Test

Who Should Get This Test

To identify mutations in the COL4A5 gene for the diagnosis of Alport syndrome, guiding treatment and genetic counseling.

How to Prepare

  • Ensure proper identification
  • Use sterile equipment
  • Label samples correctly

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Early genetic diagnosis of Alport syndrome is crucial for managing kidney function and informing family members about risks."

Last medically reviewed: September 3, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 ml blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger prick

Sample Stability

Blood: 48 hours at room temperature
Extracted DNA: stable for years if stored properly
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient volume
  • Improperly labeled sample

Understanding Your Results

Results indicate the presence or absence of mutations in the COL4A5 gene associated with Alport syndrome.
Positive result: Pathogenic variant detected, confirming diagnosis.
Negative result: No pathogenic variants found, but clinical symptoms may require further testing.
Variant of uncertain significance: Requires additional analysis and genetic counseling.
⚠️ When to Consult a Doctor:

If symptoms persist or worsen, or for family planning advice after positive results.

Limitations

  • May not detect all types of mutations
  • Requires genetic counseling for interpretation
  • Not a standalone diagnostic tool; clinical correlation needed

Risks & Considerations

  • Minimal risk from blood draw: bruising, infection
  • Psychological impact of results

Interfering Factors

  • Sample contamination
  • Degraded DNA
  • Technical errors in sequencing

Frequently Asked Questions

What is Alport syndrome?
Alport syndrome is a rare genetic disorder that affects the kidneys, ears, and eyes, often leading to kidney failure, hearing loss, and vision problems.
What is the COL4A5 gene?
The COL4A5 gene provides instructions for making a component of type IV collagen, essential for basement membrane structure in kidneys, ears, and eyes.
How is the COL4A5 NGS genetic test performed?
The test uses next-generation sequencing to analyze DNA from a blood sample for mutations in the COL4A5 gene.
What is the cost of the test?
The test costs INR 20000, which includes the test, consultation, and follow-up appointments.
Is home sample collection available?
Yes, free home sample collection is available across India for online bookings.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What do the results mean?
A positive result indicates a mutation in the COL4A5 gene, confirming Alport syndrome. A negative result suggests no pathogenic variants were found.
Is the test covered by insurance?
Coverage depends on your insurance plan. Check with your provider for details.
Who should get this test?
Individuals with symptoms of Alport syndrome, such as blood in urine, hearing loss, or a family history of the disorder.
What are the risks of the test?
Risks are minimal, primarily related to blood draw, such as bruising or infection.
Can the test be done for children?
Yes, the test can be performed on individuals of all ages, including children.
How accurate is the test?
The test is highly accurate for detecting mutations in the COL4A5 gene using advanced NGS technology.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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LIMS Integration

Your Data Privacy

Your medical data is protected under Indian law.

Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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