NLRC4 Gene Cold autoinflammatory syndrome type 4, familial NGS Genetic Test
Short Name: NLRC4 Genetic Test
Also known as: Familial Cold Autoinflammatory Syndrome Type 4
NLRC4 Gene Cold autoinflammatory syndrome type 4, familial 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 Cold Autoinflammatory Syndrome Type 4 by identifying pathogenic mutations in the NLRC4 gene using NGS technology, aiding in clinical management and genetic counseling.
- Test Code
- 2375
- 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
Provide clinical history and undergo genetic counseling to draw a family pedigree chart.
Method: Venipuncture
Laboratory Analysis
Sample collected via venipuncture or from FTA card; minimal discomfort.
Report Delivery
Apply pressure to the puncture site; sample sent to lab for processing.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose Cold Autoinflammatory Syndrome Type 4 by identifying pathogenic mutations in the NLRC4 gene using NGS technology, aiding in clinical management and genetic counseling.
How to Prepare
- Use sterile equipment for blood collection
- Ensure proper labeling of samples
- Transport samples at ambient room temperature
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"This NGS genetic test is essential for confirming diagnosis in patients with recurrent fever, rash, and joint pain triggered by cold exposure, ensuring targeted management."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Incorrect sample type or volume
- Missing patient information or consent
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of Cold Autoinflammatory Syndrome Type 4; recommend specialist consultation.
Variant of uncertain significance
Requires additional testing or clinical correlation; consult genetic counselor.
No pathogenic variant detected
Does not rule out disease; consider other causes or repeat testing if clinically indicated.
Consult a doctor or genetic counselor if symptoms persist, family history exists, or after receiving test results for personalized management and treatment options.
Limitations
- ⚠May not detect all genetic variants or novel mutations
- ⚠Results require clinical correlation for definitive diagnosis
- ⚠Does not assess for other autoimmune or inflammatory conditions
Risks & Considerations
- ●Minimal risk from blood draw (bruising, infection)
- ●Psychological impact of genetic results
- ●Potential for uncertain findings requiring follow-up
Interfering Factors
- ●Poor sample quality or insufficient DNA
- ●Contamination during sample collection
- ●Recent blood transfusions may affect DNA results
Compare With Similar Tests
| Test | NLRC4 Gene Cold autoinflammatory syndrome type 4, familial NGS Genetic Test | NLRP3 Gene Mutation Test | Autoinflammatory Panel |
|---|---|---|---|
| Comparison | NLRC4 Gene Cold autoinflammatory syndrome type 4, familial NGS Genetic Test |
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