PSTPIP1 Gene Pyogenic sterile arthritis, pyoderma gangrenosum, and acne NGS Genetic Test
Short Name: PSTPIP1 Gene Test
Also known as: PAPA Syndrome Genetic Test, PSTPIP1 Mutation Analysis
PSTPIP1 Gene Pyogenic sterile arthritis, pyoderma gangrenosum, and acne 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. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
To diagnose PSTPIP1-associated autoinflammatory diseases, including pyogenic sterile arthritis, pyoderma gangrenosum, and acne, by identifying mutations in the PSTPIP1 gene using NGS technology.
- Test Code
- 5126
- 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
- Next-Generation Sequencing (NGS)
Sample Collection
Clinical history of patient and genetic counseling session to draw a pedigree chart of family members affected with PSTPIP1-associated diseases.
Method: Blood Draw or FTA Card Collection
Laboratory Analysis
Standard blood draw or collection of one drop blood on FTA card, performed by a trained phlebotomist.
Report Delivery
Sample is processed and analyzed using NGS technology. Results are reviewed and reported by geneticists.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose PSTPIP1-associated autoinflammatory diseases, including pyogenic sterile arthritis, pyoderma gangrenosum, and acne, by identifying mutations in the PSTPIP1 gene using NGS technology.
How to Prepare
- Use sterile equipment for blood collection
- For FTA card, ensure proper spotting and drying
- Label samples accurately with patient details
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
- Hemolyzed samples
- Insufficient sample volume
- Improperly labeled samples
Understanding Your Results
Consult a doctor if symptoms persist, worsen, or if genetic counseling is needed for family planning or management.
Limitations
- ⚠May not detect all genetic variants
- ⚠Requires genetic counseling for interpretation
- ⚠Results should be correlated with clinical findings
Risks & Considerations
- ●Minor bruising at blood draw site
- ●Rare infection risk
- ●Emotional impact of genetic results
Interfering Factors
- ●Sample contamination
- ●Degraded DNA
- ●Improper sample collection
Frequently Asked Questions
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