COL4A3 Gene Alport syndrome, autosomal recessive NGS Genetic Test
Short Name: COL4A3 Alport Syndrome NGS Test
Also known as: COL4A3 Gene Sequencing, Alport Syndrome Genetic Test, Autosomal Recessive Alport Syndrome Test
COL4A3 Gene Alport syndrome, autosomal recessive NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next Generation Sequencing) 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 SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 3, 2026
Overview
The purpose of this test is to identify pathogenic mutations in the COL4A3 gene to diagnose autosomal recessive Alport Syndrome, confirm clinical suspicions, guide treatment decisions, and facilitate family planning through genetic counseling.
- Test Code
- 5363
- 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 (Next Generation Sequencing)
Sample Collection
No special preparation such as fasting is required. Ensure a genetic counseling session is scheduled to discuss family history and draw a pedigree chart.
Method: Venipuncture or FTA card collection
Laboratory Analysis
A trained phlebotomist will collect a blood sample via venipuncture or a drop of blood on an FTA card, following sterile procedures.
Report Delivery
Apply gentle pressure to the puncture site with a cotton ball to stop bleeding. Avoid strenuous activity with the arm for a few hours.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify pathogenic mutations in the COL4A3 gene to diagnose autosomal recessive Alport Syndrome, confirm clinical suspicions, guide treatment decisions, and facilitate family planning through genetic counseling.
How to Prepare
- Verify patient identity and label samples correctly
- Use sterile collection equipment
- For FTA card, ensure blood drop is properly applied and dried
- Transport samples at ambient room temperature as specified
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for COL4A3 is crucial for early diagnosis and management of autosomal recessive Alport Syndrome, helping to prevent kidney failure and other complications."
Last medically reviewed: September 3, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Incorrect labeling or mismatched patient information
- Contaminated or degraded samples
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of autosomal recessive Alport Syndrome. Genetic counseling is recommended for management and family testing.
No pathogenic variant detected
Alport Syndrome due to COL4A3 mutations is unlikely, but clinical correlation with symptoms and other tests is advised. Consider testing for other genes if suspicion remains.
Variant of uncertain significance (VUS)
Further evaluation and family studies may be needed. Consult a geneticist for guidance.
Consult a healthcare professional, such as a geneticist or nephrologist, if you experience symptoms like persistent hematuria, hearing loss, or have a family history of Alport Syndrome, to discuss testing and management options.
Limitations
- ⚠Limited to detection of mutations in the COL4A3 gene only
- ⚠May not identify all genetic variants, including novel mutations
- ⚠Interpretation requires expert genetic counseling and clinical correlation
- ⚠Does not rule out mutations in other Alport Syndrome genes like COL4A4 or COL4A5
Risks & Considerations
- ●Minor bruising or discomfort at the blood draw site
- ●Rare risk of infection at puncture site
- ●Emotional impact of genetic results, mitigated by counseling
Interfering Factors
- ●DNA degradation due to improper sample handling
- ●Sample contamination
- ●Technical errors in sequencing
- ●Presence of inhibitors in blood sample
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Frequently Asked Questions
What is the COL4A3 Gene Alport Syndrome NGS Genetic Test?
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What is the cost of this genetic test in India?
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Can this test be used for prenatal diagnosis?
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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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