PITX2 Gene Axenfeld-Rieger syndrome type 1 NGS Genetic Test
Short Name: PITX2 ARS Type 1 NGS Test
Also known as: Axenfeld-Rieger Syndrome Type 1, ARS Type 1, PITX2-related disorder
PITX2 Gene Axenfeld-Rieger syndrome type 1 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 7, 2026
Overview
To diagnose Axenfeld-Rieger Syndrome Type 1 by detecting mutations in the PITX2 gene using NGS technology, enabling early intervention and genetic counseling.
- Test Code
- 5660
- 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 specific preparation required. Provide clinical history and family pedigree information.
Method: Venipuncture
Laboratory Analysis
Blood sample collected via venipuncture or use of FTA card for one drop of blood.
Report Delivery
Apply pressure to the puncture site. Store samples as instructed for stability.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose Axenfeld-Rieger Syndrome Type 1 by detecting mutations in the PITX2 gene using NGS technology, enabling early intervention and genetic counseling.
How to Prepare
- Ensure proper labeling of samples
- Use sterile collection tubes
- Transport samples at ambient temperature
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic diagnosis of Axenfeld-Rieger Syndrome Type 1 is vital for managing ocular health and informing reproductive decisions."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed samples
- Insufficient sample volume
- Contaminated samples
Understanding Your Results
Consult a genetic specialist or ophthalmologist if results are positive or uncertain, or if symptoms persist.
Limitations
- ⚠May not detect all genetic variations
- ⚠Requires interpretation by a genetic counselor
- ⚠Results may include variants of uncertain significance
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection
Interfering Factors
- ●Sample contamination
- ●Degraded DNA
- ●Incorrect sample storage
Frequently Asked Questions
What is Axenfeld-Rieger Syndrome Type 1?
What causes this syndrome?
What are the common symptoms?
How is the test performed?
What is the cost of the test?
Is home sample collection available?
How long does it take to get results?
What do the results mean?
Is genetic counseling provided?
Can this test be used for prenatal diagnosis?
What are the risks of the test?
How accurate is the NGS technology?
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₹20,000Reference 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.
Your Data Privacy
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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