NLRP3 Gene Muckle-wells syndrome NGS Genetic Test
Short Name: NLRP3 MWS NGS Test
Also known as: Muckle-Wells syndrome, Cryopyrin-Associated Periodic Syndrome (CAPS), Urticaria-deafness-amyloidosis (UDA) syndrome
NLRP3 Gene Muckle-wells syndrome 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 SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
To diagnose Muckle-Wells syndrome by identifying mutations in the NLRP3 gene, enabling early intervention and management of symptoms.
- Test Code
- 5058
- 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
No specific preparation required. Provide clinical history and family pedigree during genetic counseling.
Method: Venipuncture or finger-prick
Laboratory Analysis
A blood sample is drawn via venipuncture or a finger-prick for FTA card collection.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Store sample as per instructions.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose Muckle-Wells syndrome by identifying mutations in the NLRP3 gene, enabling early intervention and management of symptoms.
How to Prepare
- Ensure proper identification of the patient
- Use sterile collection equipment
- Label samples accurately
- Transport samples at ambient temperature unless specified
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for NLRP3 mutations is crucial for early diagnosis and management of Muckle-Wells syndrome, helping to prevent complications like amyloidosis."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Incorrect sample type or container
- Insufficient sample volume
- Missing patient identification
Understanding Your Results
Positive for pathogenic variant
Confirms diagnosis of Muckle-Wells syndrome; recommend clinical management and family screening.
Negative for pathogenic variant
No mutation detected; symptoms may be due to other causes; consider additional testing.
Variant of uncertain significance (VUS)
Further research needed; genetic counseling recommended for guidance.
Consult a doctor if you experience recurrent fever, rash, joint pain, or hearing loss, especially with a family history of autoinflammatory disorders.
Limitations
- ⚠May not detect all rare or novel mutations
- ⚠Requires genetic counseling for accurate interpretation
- ⚠Results are not diagnostic alone; clinical correlation is needed
- ⚠Turnaround time may vary based on laboratory workload
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection
- ●Psychological impact of genetic results; counseling available
Interfering Factors
- ●Poor sample quality or contamination
- ●Hemolyzed blood sample
- ●Insufficient DNA quantity
- ●Recent blood transfusion
Compare With Similar Tests
| Test | NLRP3 Gene Muckle-wells syndrome NGS Genetic Test | Serum Amyloid A Test | C-Reactive Protein Test | Sanger Sequencing for NLRP3 | Skin Biopsy for Amyloidosis |
|---|---|---|---|---|---|
| Comparison | NLRP3 Gene Muckle-wells syndrome NGS Genetic Test | Measures inflammation markers but does not identify genetic cause. | Indicates inflammation but is non-specific for Muckle-Wells syndrome. | Traditional method; NGS offers higher throughput and accuracy for multiple variants. | Detects amyloid deposits but not the underlying genetic mutation. |
Frequently Asked Questions
What is Muckle-Wells syndrome?
How is the NLRP3 gene test performed?
What is the cost of the test in India?
Is home sample collection available?
How long does it take to get results?
What are the symptoms of Muckle-Wells syndrome?
Who should consider this test?
Is genetic counseling required?
What if the test result is positive?
Can the test detect all mutations?
Is the test covered by insurance?
How do I prepare for the test?
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