IRF6 Gene Popliteal pterygium syndrome type 1 NGS Genetic Test
Short Name: IRF6 PPS1 NGS
Also known as: IRF6 Gene Test, PPS1 Genetic Test, Popliteal Pterygium Syndrome NGS
IRF6 Gene Popliteal pterygium syndrome type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks from sample receipt. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this test is to confirm a clinical diagnosis of Popliteal Pterygium Syndrome Type 1 by identifying pathogenic variants in the IRF6 gene. It helps in differentiating PPS1 from other similar conditions, provides information for genetic counseling, and assists in assessing recurrence risks for family planning.
- Test Code
- 5914
- CPT Code
- 81407
- ICD Code
- Q87.0
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks from sample receipt
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No special preparation required. Inform your doctor about any medications or supplements.
Method: Venipuncture or FTA card spot
Laboratory Analysis
Blood sample will be drawn by a trained phlebotomist. For FTA card, a drop of blood will be placed on the card.
Report Delivery
No restrictions. You can resume normal activities immediately.
Timeline: 3 to 4 weeks from sample receipt
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to confirm a clinical diagnosis of Popliteal Pterygium Syndrome Type 1 by identifying pathogenic variants in the IRF6 gene. It helps in differentiating PPS1 from other similar conditions, provides information for genetic counseling, and assists in assessing recurrence risks for family planning.
How to Prepare
- For blood: Use EDTA vacutainer, fill to indicated mark.
- For FTA card: Apply one drop of blood onto each circle, air dry.
- Label the sample with patient name, date, and time.
- Transport at ambient temperature (15-30°C) within 24 hours.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early genetic confirmation of PPS1 enables timely management of craniofacial and limb anomalies. NGS provides comprehensive coverage of the IRF6 gene."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improper labeling
- Sample received after prolonged transit without proper storage
Understanding Your Results
Positive
Confirms diagnosis of PPS1. Genetic counseling recommended for family planning.
Negative
No mutation found in IRF6. Consider other genetic causes if symptoms persist.
VUS
Variant of uncertain significance. Further testing of family members may help clarify.
Consult a geneticist or pediatrician if you or your child have symptoms suggestive of PPS1, or if you have a family history of the condition.
Limitations
- ⚠This test detects mutations in the IRF6 gene only; other genes may cause similar phenotypes.
- ⚠Variant of uncertain significance (VUS) may require further family studies.
- ⚠Large deletions/duplications may not be detected by NGS alone; additional testing may be needed.
- ⚠Test does not assess non-coding regulatory regions beyond standard coverage.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of receiving a genetic diagnosis
- ●Potential for uncertain results (VUS)
Interfering Factors
- ●Contaminated or degraded DNA sample
- ●Recent blood transfusion (within 2 weeks)
- ●Bone marrow transplantation (may cause mixed DNA)
- ●Incorrect sample labeling
Compare With Similar Tests
| Test | IRF6 Gene Popliteal pterygium syndrome type 1 NGS Genetic Test | IRF6 Gene Sequencing (Sanger) | Whole Exome Sequencing |
|---|---|---|---|
| Comparison | IRF6 Gene Popliteal pterygium syndrome type 1 NGS Genetic Test |
Frequently Asked Questions
What is Popliteal Pterygium Syndrome Type 1?
How is the IRF6 gene test performed?
What is the cost of the test?
Is home sample collection available?
How long does it take to get results?
Will I receive raw data files?
What does a positive result mean?
Can this test be done for prenatal diagnosis?
Are there any risks associated with the test?
Is fasting required before the test?
What is the sample type accepted?
How do I book the test?
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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.
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