IRF8 Gene Immunodeficiency type 32B, monocyte and dendritic cell deficiency, autosomal recessive NGS Genetic Test
Also known as: Immunodeficiency type 32B, Monocyte and dendritic cell deficiency
IRF8 Gene Immunodeficiency type 32B, monocyte and dendritic cell deficiency, autosomal recessive 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 IRF8 Gene Immunodeficiency type 32B through genetic analysis, aiding in clinical management and family planning.
- Test Code
- 5012
- 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 the patient and a genetic counseling session to draw a pedigree chart of family members affected with IRF8 Gene Immunodeficiency type 32B.
Method: Venipuncture
Laboratory Analysis
Standard venipuncture procedure for blood collection or use of FTA card for one drop of blood.
Report Delivery
Sample is sent to the laboratory for analysis; results are available in 3 to 4 weeks.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose IRF8 Gene Immunodeficiency type 32B through genetic analysis, aiding in clinical management and family planning.
How to Prepare
- Collect blood sample in EDTA tube or use FTA card
- Ensure proper labeling with patient details
- Store at ambient room temperature
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test is crucial for diagnosing rare immunodeficiencies and guiding treatment plans, especially in families with a history of immune disorders."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed sample
- Insufficient volume
- Improperly labeled sample
Understanding Your Results
Positive
Pathogenic variant detected, indicating IRF8 Gene Immunodeficiency type 32B. Consult a specialist for management.
Negative
No pathogenic variants detected. Symptoms may be due to other causes; further evaluation recommended.
Variant of uncertain significance
Further testing or clinical correlation needed. Genetic counseling advised.
Consult a geneticist or immunologist if symptoms persist, worsen, or for family planning advice after testing.
Limitations
- ⚠May not detect all genetic variants
- ⚠Results require clinical correlation
- ⚠Not a substitute for comprehensive clinical evaluation
Risks & Considerations
- ●Minimal risks such as bruising at blood draw site
- ●No significant long-term risks
Interfering Factors
- ●Sample contamination
- ●Degraded DNA
- ●Incorrect sample handling
Frequently Asked Questions
What is IRF8 Gene Immunodeficiency type 32B?
What are the common symptoms of this condition?
How is IRF8 Gene Immunodeficiency diagnosed?
What is the cost of the NGS Genetic Test at DNA Labs India?
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Is fasting required before the test?
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