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COL4A4 Gene Alport syndrome, autosomal recessive NGS Genetic Test

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COL4A4 Gene Alport syndrome, autosomal recessive NGS Genetic Test

Short Name: COL4A4 Alport Syndrome NGS Test

Also known as: Alport Syndrome Genetic Test, COL4A4 Mutation Analysis, Autosomal Recessive Alport Syndrome NGS Test

COL4A4 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.

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 3, 2026

Overview

To identify mutations in the COL4A4 gene for accurate diagnosis of autosomal recessive Alport syndrome, enabling personalized medical management, family screening, and genetic counseling.

Test Code
5364
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

Provide clinical history and undergo genetic counseling to draw a pedigree chart. No fasting required.

Method: Venipuncture or finger prick

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or finger prick onto FTA card. Ensure proper labeling.

Step 3

Report Delivery

Apply pressure to puncture site. Store sample at ambient room temperature. Transport to lab promptly.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are recommended before sample collection.
2
During the Test:Sample collection is a simple blood draw or finger prick with minimal discomfort.
3
After the Test:Results are available in 3-4 weeks. Follow-up with a healthcare provider for interpretation.

About This Test

Who Should Get This Test

To identify mutations in the COL4A4 gene for accurate diagnosis of autosomal recessive Alport syndrome, enabling personalized medical management, family screening, and genetic counseling.

How to Prepare

  • Fast for not required
  • Bring referral and ID
  • Inform about any medications
  • Ensure sample is properly labeled

Doctor's Notes

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

"This NGS test is essential for confirming autosomal recessive Alport syndrome, guiding management, and informing family planning."

Last medically reviewed: September 3, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger prick

Sample Stability

Stable at room temperature for 24 hours
FTA card samples stable for longer periods
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient volume
  • Contaminated sample
  • Incorrect labeling

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the COL4A4 gene. Positive results confirm autosomal recessive Alport syndrome, while negative results may require further testing.
📊

Pathogenic variant detected

Confirms diagnosis of autosomal recessive Alport syndrome. Recommend nephrology referral and family screening.

📊

Variant of uncertain significance (VUS)

Further clinical correlation and family studies needed. Genetic counseling advised.

📊

No pathogenic variant detected

Alport syndrome due to COL4A4 mutations unlikely. Consider testing other genes or alternative diagnoses.

⚠️ When to Consult a Doctor:

Consult a nephrologist or geneticist if symptoms such as blood in urine, hearing loss, or vision problems persist, or if there is a family history of Alport syndrome.

Limitations

  • ⚠May not detect all types of mutations (e.g., large deletions/duplications)
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings
  • ⚠Does not rule out mutations in other Alport syndrome genes

Risks & Considerations

  • ●Minimal risks from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Hemolyzed blood sample
  • ●Improper sample storage

Frequently Asked Questions

What is Alport syndrome?
Alport syndrome is a genetic disorder affecting the kidneys, ears, and eyes, leading to kidney failure, hearing loss, and vision problems.
What is the role of the COL4A4 gene?
The COL4A4 gene provides instructions for making a protein in type IV collagen, essential for basement membranes in kidneys and other tissues.
How is autosomal recessive Alport syndrome inherited?
It requires two mutated copies of the COL4A4 gene, one from each parent, who are typically carriers without symptoms.
What are the symptoms of Alport syndrome?
Common symptoms include blood in urine, protein in urine, progressive kidney function loss, hearing loss, and vision problems.
How is Alport syndrome diagnosed?
Diagnosis involves clinical evaluation, family history, urinalysis, blood tests, kidney biopsy, and genetic testing like this NGS test.
What does the NGS genetic test involve?
It uses next-generation sequencing to analyze the entire COL4A4 gene for mutations, confirming diagnosis.
What is the cost of this test in India?
The cost is INR 20,000, with free home sample collection available across India.
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 in 3 to 4 weeks.
What sample is needed for the test?
Blood, extracted DNA, or one drop of blood on an FTA card can be used.
Can this test detect all Alport syndrome mutations?
It focuses on COL4A4 gene; mutations in other genes like COL4A3 or COL4A5 may require separate testing.
What should I do if I have a family history of Alport syndrome?
Consult a genetic counselor or nephrologist to discuss testing and management options.
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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