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COL4A3 Gene Alport syndrome, autosomal recessive NGS Genetic Test

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COL4A3 Gene Alport syndrome, autosomal recessive NGS Genetic Test

Short Name: COL4A3 Alport Syndrome NGS Test

Also known as: Alport Syndrome Genetic Test, COL4A3 Mutation Test, Autosomal Recessive Alport Syndrome NGS Test

COL4A3 Gene Alport syndrome, autosomal recessive NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To detect mutations in the COL4A3 gene for diagnosing autosomal recessive Alport Syndrome, aiding in early intervention, family planning, and symptom management.

Test Code
2279
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
NGS Technology
Step 1

Sample Collection

Genetic counselling session recommended to assess family history and provide informed consent.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via venipuncture by a trained phlebotomist.

Step 3

Report Delivery

Sample is labeled, stored at ambient temperature, and transported to the lab for NGS analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counselling and clinical history assessment to determine test necessity.
2
During the Test:Sample processing, DNA extraction, and NGS sequencing in the laboratory.
3
After the Test:Report generation, genetic counselling for result interpretation, and follow-up recommendations.

About This Test

Who Should Get This Test

To detect mutations in the COL4A3 gene for diagnosing autosomal recessive Alport Syndrome, aiding in early intervention, family planning, and symptom management.

How to Prepare

  • Provide detailed clinical history
  • Attend genetic counselling session
  • Ensure sample is collected in a sterile container

Doctor's Notes

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

"Genetic testing for COL4A3 mutations is crucial for diagnosing Alport Syndrome early, allowing for interventions that can slow kidney disease progression and manage hearing loss."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5ml Blood
ContainerEDTA tube
Collection MethodVenipuncture

Sample Stability

Stable at room temperature for 24 hours
Extracted DNA stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Incorrect labeling

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the COL4A3 gene. Positive results confirm autosomal recessive Alport Syndrome, while negative results do not rule out other causes.
Positive: Pathogenic variants detected, indicating Alport Syndrome carrier or affected status.
Negative: No pathogenic variants found; clinical correlation recommended.
Variant of uncertain significance (VUS): Further testing or family studies may be needed.
⚠️ When to Consult a Doctor:

If you experience symptoms like persistent hematuria, hearing loss, or have a family history of kidney disease or Alport Syndrome.

Limitations

  • ⚠May not detect all mutation types (e.g., large deletions)
  • ⚠Requires genetic counselling for interpretation
  • ⚠Results may take 3-4 weeks

Risks & Considerations

  • ●Minimal risk from blood draw (bruising, infection)
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Sample quality issues
  • ●Contamination during collection
  • ●Incomplete clinical history

Compare With Similar Tests

TestCOL4A3 Gene Alport syndrome, autosomal recessive NGS Genetic Test
ComparisonCOL4A3 Gene Alport syndrome, autosomal recessive NGS Genetic Test

Frequently Asked Questions

What is Alport Syndrome?
Alport Syndrome is a rare genetic disorder affecting the kidneys, ears, and eyes, caused by mutations in genes like COL4A3, leading to progressive kidney disease, hearing loss, and vision problems.
What does the COL4A3 gene test involve?
The test uses next-generation sequencing (NGS) to analyze the COL4A3 gene for mutations, helping diagnose autosomal recessive Alport Syndrome.
Who should consider this genetic test?
Individuals with symptoms like hematuria, proteinuria, hearing loss, or a family history of Alport Syndrome should consider this test.
What is the cost of the test in India?
The COL4A3 Gene Alport Syndrome NGS Genetic Test costs INR 20,000 at DNA Labs India, with free home sample collection.
How is the sample collected?
A blood sample is collected via venipuncture, or extracted DNA or a drop on an FTA card can be used.
Is fasting required for this test?
No, fasting is not required for this genetic test.
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?
Results indicate the presence or absence of pathogenic mutations in COL4A3. A genetic counsellor will help interpret the findings.
Is this test accurate?
Yes, NGS technology provides high accuracy in detecting mutations, but no test is 100% comprehensive; genetic counselling is recommended.
Can this test be done for children?
Yes, the test is suitable for all ages, but genetic counselling is essential for minors.
What if the test is negative but symptoms persist?
A negative result does not rule out other causes; consult a doctor for further evaluation.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test in numerous cities across India.
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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For Hospitals & Clinics

Reference Laboratory Services

We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

LIMS Integration

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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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