ITGB2 Gene Leukocyte adhesion deficiency NGS Genetic Test
Short Name: ITGB2 Gene LAD NGS Test
Also known as: LAD Type 1 Genetic Test, ITGB2 Mutation Analysis, Leukocyte Adhesion Deficiency NGS Test
ITGB2 Gene Leukocyte adhesion 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
To identify pathogenic mutations in the ITGB2 gene that cause Leukocyte Adhesion Deficiency Type 1, enabling accurate diagnosis, management, and genetic counseling for affected individuals and families.
- Test Code
- 4721
- 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
Provide detailed clinical history and undergo genetic counseling to draw a pedigree chart of affected family members.
Method: Venipuncture
Laboratory Analysis
Blood sample collected via venipuncture in a sterile environment.
Report Delivery
Sample is transported to the laboratory at ambient temperature for DNA extraction and NGS analysis.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To identify pathogenic mutations in the ITGB2 gene that cause Leukocyte Adhesion Deficiency Type 1, enabling accurate diagnosis, management, and genetic counseling for affected individuals and families.
How to Prepare
- Use sterile technique for blood draw
- Label sample with patient details
- Transport at ambient room temperature
- Avoid hemolysis during collection
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early diagnosis of LAD Type 1 through genetic testing is crucial for managing symptoms, preventing recurrent infections, and guiding family planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted sample
- Insufficient sample volume
- Improper labeling or documentation
- Contaminated sample
Understanding Your Results
Positive for pathogenic variants
Consistent with diagnosis of LAD Type 1; clinical correlation recommended.
Negative for pathogenic variants
No mutations detected; LAD Type 1 unlikely but clinical evaluation may continue.
Variant of uncertain significance
Further testing or family studies may be needed for clarification.
If symptoms such as recurrent infections, delayed wound healing, or impaired pus formation are present, consult a geneticist or immunologist for evaluation and possible testing.
Limitations
- ⚠May not detect all types of mutations (e.g., large deletions)
- ⚠Results require clinical correlation
- ⚠Not a substitute for comprehensive clinical evaluation
- ⚠Variant of uncertain significance may require further testing
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or discomfort
- ●Psychological impact of genetic results
- ●No significant physical risks associated with NGS testing
Interfering Factors
- ●Sample contamination
- ●Degraded DNA
- ●Hemolyzed blood sample
- ●Improper storage conditions
Compare With Similar Tests
| Test | ITGB2 Gene Leukocyte adhesion deficiency NGS Genetic Test | Flow cytometry for LAD | Sanger sequencing | Whole exome sequencing |
|---|---|---|---|---|
| Comparison | ITGB2 Gene Leukocyte adhesion deficiency NGS Genetic Test | Detects protein expression but may not identify specific genetic mutations. | Targeted but less comprehensive than NGS for multiple mutations. | Broader scope but higher cost and complexity for single-gene disorders. |
Frequently Asked Questions
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