IRAK4 Gene IRAK4 deficiency NGS Genetic Test
Short Name: IRAK4 Deficiency NGS Test
Also known as: IRAK4 Gene Mutation Test, IRAK4 Deficiency Genetic Test
IRAK4 Gene IRAK4 deficiency 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
The purpose of the IRAK4 Gene IRAK4 deficiency NGS Genetic Test is to accurately diagnose IRAK4 deficiency by detecting mutations in the IRAK4 gene using next-generation sequencing technology. This test helps identify individuals with immune system dysfunction due to genetic variants, enabling appropriate medical management, genetic counseling, and family planning.
- Test Code
- 5039
- 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
Genetic counseling session to discuss test implications and draw a pedigree chart of family history. Provide clinical history of the patient.
Method: Venipuncture
Laboratory Analysis
Blood sample collected via venipuncture or alternative methods like FTA card for one drop of blood.
Report Delivery
Sample sent to laboratory for NGS analysis. Report delivered in 3-4 weeks.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the IRAK4 Gene IRAK4 deficiency NGS Genetic Test is to accurately diagnose IRAK4 deficiency by detecting mutations in the IRAK4 gene using next-generation sequencing technology. This test helps identify individuals with immune system dysfunction due to genetic variants, enabling appropriate medical management, genetic counseling, and family planning.
How to Prepare
- Ensure proper identification of patient
- Use sterile collection equipment
- Label sample correctly with patient details
- Transport sample at ambient room temperature
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early diagnosis of IRAK4 deficiency through genetic testing is crucial for managing immune disorders and preventing severe infections. Consult a genetic counselor for personalized advice."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted sample
- Insufficient sample volume
- Incorrect labeling or missing information
Understanding Your Results
Positive for pathogenic variants
Confirms diagnosis of IRAK4 deficiency. Consult a specialist for management.
Negative for pathogenic variants
No mutations detected in IRAK4 gene. Consider other causes if symptoms persist.
Variant of uncertain significance
Further testing or family studies may be needed for clarification.
Consult a doctor if you experience recurrent infections, have a family history of immunodeficiency, or receive a positive test result for appropriate management and genetic counseling.
Limitations
- ⚠May not detect all types of mutations, such as large deletions or deep intronic variants
- ⚠Requires genetic counseling for interpretation
- ⚠Results should be correlated with clinical findings
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection
- ●Psychological impact of genetic results
Interfering Factors
- ●Sample contamination
- ●Degraded DNA
- ●Incorrect sample collection or storage
Frequently Asked Questions
What is IRAK4 deficiency?
What are the common symptoms of IRAK4 deficiency?
How is IRAK4 deficiency diagnosed?
What is the cost of the IRAK4 deficiency genetic test in India?
Is the test covered by insurance?
How long does it take to get the test results?
What sample is required for the test?
Is home sample collection available?
What are the risks of the genetic test?
How accurate is the NGS genetic test for IRAK4 deficiency?
Can children be tested for IRAK4 deficiency?
What should I do if I have a family history of IRAK4 deficiency?
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Reference 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.
Your Data Privacy
Your medical data is protected under Indian law.
✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
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