IRAK4 Gene Invasive pneumococcal disease, recurrent isolated type 1 NGS Genetic Test
Short Name: IRAK4 Gene IPD Test
Also known as: IRAK4 Deficiency Test, Pneumococcal Susceptibility Gene Test
IRAK4 Gene Invasive pneumococcal disease, recurrent isolated type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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 identify genetic mutations in the IRAK4 gene that predispose individuals to recurrent invasive pneumococcal disease, enabling early intervention, personalized management, and genetic counseling for at-risk families.
- Test Code
- 5038
- 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 Technology
Sample Collection
Clinical history review and genetic counseling session recommended to discuss test implications and obtain informed consent.
Method: Venipuncture or Blood Drop
Laboratory Analysis
Blood sample collected via venipuncture into an EDTA tube or one drop on an FTA card by a trained phlebotomist.
Report Delivery
Apply pressure to the puncture site to prevent bruising; avoid strenuous activity for a few hours.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
To identify genetic mutations in the IRAK4 gene that predispose individuals to recurrent invasive pneumococcal disease, enabling early intervention, personalized management, and genetic counseling for at-risk families.
How to Prepare
- Provide clinical history and family pedigree chart during genetic counseling
- Bring identification and doctor's prescription
- Inform about any medications or recent transfusions
- Ensure sample is labeled correctly with patient details
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for IRAK4 mutations is crucial for early diagnosis and management of recurrent pneumococcal infections, especially in individuals with a family history or severe symptoms."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume for DNA extraction
- Incorrectly labeled or unlabeled samples
- Samples collected in inappropriate containers
Understanding Your Results
Consult a geneticist, immunologist, or infectious disease specialist if you experience recurrent pneumococcal infections, have a family history of IPD, or receive a positive test result for guidance on management and prevention.
Limitations
- ⚠May not detect all genetic variants or novel mutations
- ⚠Results require clinical correlation with symptoms and family history
- ⚠Not a diagnostic test for active infections; identifies genetic predisposition only
- ⚠Limited to known pathogenic variants in the IRAK4 gene
Risks & Considerations
- ●Minor bruising or discomfort at the blood draw site
- ●Rare risk of infection or hematoma
- ●Psychological impact of genetic results; counseling available
Interfering Factors
- ●Sample contamination during collection or transport
- ●Degraded DNA due to improper storage
- ●Hemolyzed or lipemic blood samples
- ●Recent blood transfusions affecting DNA analysis
Compare With Similar Tests
| Test | IRAK4 Gene Invasive pneumococcal disease, recurrent isolated type 1 NGS Genetic Test | BTK Gene Test | TLR4 Gene Test | Immunoglobulin Levels Test | Complement System Test |
|---|---|---|---|---|---|
| Comparison | IRAK4 Gene Invasive pneumococcal disease, recurrent isolated type 1 NGS Genetic Test | Used for diagnosing X-linked agammaglobulinemia, another primary immunodeficiency disorder. | Assesses susceptibility to gram-negative bacterial infections, different from pneumococcal focus. | Measures antibody levels to evaluate overall immune function, not specific genetic mutations. | Evaluates complement proteins involved in immune response, complementary to genetic testing. |
Frequently Asked Questions
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