PAX3 Gene Waardenburg syndrome type 1 NGS Genetic Test
Short Name: PAX3 Gene Waardenburg Syndrome Type 1 Test
Also known as: Waardenburg Syndrome Type 1, PAX3-related Waardenburg Syndrome, WS1
PAX3 Gene Waardenburg syndrome type 1 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.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of the PAX3 Gene Waardenburg Syndrome Type 1 NGS Genetic Test is to identify pathogenic mutations in the PAX3 gene, confirming a diagnosis of Waardenburg Syndrome Type 1. This aids in clinical management, genetic counseling, and family risk assessment.
- Test Code
- 5167
- 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
Sample Collection
No specific preparation required. Ensure genetic counseling session is scheduled to discuss family history and draw a pedigree chart.
Method: Venipuncture or blood drop
Laboratory Analysis
A blood sample will be collected via venipuncture or a drop on FTA card by a trained phlebotomist.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Store sample as instructed for stability.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the PAX3 Gene Waardenburg Syndrome Type 1 NGS Genetic Test is to identify pathogenic mutations in the PAX3 gene, confirming a diagnosis of Waardenburg Syndrome Type 1. This aids in clinical management, genetic counseling, and family risk assessment.
How to Prepare
- Use sterile equipment for blood collection
- Label sample correctly with patient details
- Transport sample at ambient room temperature
- Avoid hemolysis during collection
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for Waardenburg Syndrome Type 1 can aid in timely management, family planning, and addressing associated symptoms like hearing loss."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient sample volume
- Contaminated or hemolyzed sample
- Incorrect labeling or missing patient information
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of Waardenburg Syndrome Type 1. Genetic counseling and management for symptoms like hearing loss are recommended.
No pathogenic variant detected
Waardenburg Syndrome Type 1 is unlikely based on this gene. Consider other genetic or clinical causes.
Variant of uncertain significance (VUS)
Further testing or family studies may be needed. Consult a geneticist for guidance.
Consult a doctor if you experience symptoms such as hearing loss, vision changes, or skin pigmentation issues, especially with a family history of genetic disorders. After receiving test results, seek genetic counseling for interpretation and management.
Limitations
- ⚠May not detect all types of mutations, such as large deletions or intronic variants
- ⚠Requires genetic counseling for proper interpretation
- ⚠Results should be correlated with clinical findings
Risks & Considerations
- ●Minimal risks from blood draw, such as bruising or infection
- ●Psychological impact of genetic results; counseling is advised
Interfering Factors
- ●Contaminated or degraded DNA sample
- ●Improper sample collection or storage
- ●Recent blood transfusion may affect results
Compare With Similar Tests
| Test | PAX3 Gene Waardenburg syndrome type 1 NGS Genetic Test | PAX3 Gene Sanger Sequencing | Waardenburg Syndrome Panel | Hearing Loss Genetic Test |
|---|---|---|---|---|
| Comparison | PAX3 Gene Waardenburg syndrome type 1 NGS Genetic Test | NGS offers higher throughput and can detect multiple mutations simultaneously, while Sanger is targeted but slower. | Panel tests multiple genes associated with Waardenburg syndrome, whereas this test focuses solely on PAX3. | Specific to hearing loss causes, may not cover pigmentation genes like PAX3. |
Frequently Asked Questions
What is Waardenburg Syndrome Type 1?
How is the PAX3 Gene test performed?
What is the cost of the test?
Is fasting required before the test?
How long does it take to get results?
What are the symptoms of Waardenburg Syndrome Type 1?
Who should consider this test?
Is home sample collection available?
What does a positive result mean?
Can the test detect all mutations?
Is genetic counseling included?
How accurate is the test?
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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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