COL4A4 Gene Alport syndrome, autosomal recessive NGS Genetic Test
Short Name: COL4A4 Alport Syndrome NGS Test
Also known as: Alport Syndrome Genetic Test, COL4A4 Gene Sequencing, Autosomal Recessive Alport Syndrome Test
COL4A4 Gene Alport syndrome, autosomal recessive NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or FTA Card Sample samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
To identify mutations in the COL4A4 gene associated with autosomal recessive Alport Syndrome for diagnostic and counseling purposes.
- Test Code
- 2282
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or FTA Card Sample
- Result Time
- 3 to 4 Weeks
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
Provide detailed clinical history and undergo genetic counseling to discuss implications.
Method: Venipuncture or FTA Card Collection
Laboratory Analysis
Blood sample collected via venipuncture or a drop placed on FTA card.
Report Delivery
Apply pressure to puncture site. No special post-collection care required.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To identify mutations in the COL4A4 gene associated with autosomal recessive Alport Syndrome for diagnostic and counseling purposes.
How to Prepare
- Fast not required
- Sample can be blood, extracted DNA, or FTA card
- Ensure proper labeling of samples
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for Alport Syndrome is crucial for early diagnosis and family counseling. Consult an Ob-Gyn for genetic counseling in cases of family history or prenatal concerns."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient sample volume
- Hemolyzed samples
- Unlabeled samples
- Sample older than stability period
Understanding Your Results
Pathogenic variant detected
Confirms autosomal recessive Alport Syndrome; genetic counseling recommended for family planning and management.
No pathogenic variant detected
Reduces likelihood of COL4A4-related Alport Syndrome; consider other genetic causes or clinical evaluation.
Consult a geneticist or nephrologist if results are positive or if symptoms persist despite negative results.
Limitations
- ⚠Test limited to COL4A4 gene; other genes involved in Alport Syndrome not covered
- ⚠May not detect intronic or regulatory mutations
- ⚠Genetic testing does not predict disease severity or onset
Risks & Considerations
- ●Minor bruising at puncture site
- ●Infection risk (rare)
- ●No significant risks for genetic testing itself
Interfering Factors
- ●Sample contamination
- ●DNA degradation
- ●Hemolyzed samples
- ●Improper sample storage
Frequently Asked Questions
What is Alport Syndrome?
What causes Alport Syndrome?
What are the symptoms of Alport Syndrome?
How is Alport Syndrome diagnosed?
What is the COL4A4 gene?
What does the autosomal recessive NGS genetic test involve?
How much does the test cost in India?
Is home sample collection available?
How long does it take to get the results?
What if the test result is positive?
Can Alport Syndrome be treated?
Why choose DNA Labs India for this test?
Related Tests
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.
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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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