ITGB3 Gene Thrombocytopenia, neonatal alloimmune NGS Genetic Test
Short Name: ITGB3 Thrombocytopenia NGS Test
Also known as: Neonatal Alloimmune Thrombocytopenia (NAIT), ITGB3-related thrombocytopenia, Glanzmann thrombasthenia
ITGB3 Gene Thrombocytopenia, neonatal alloimmune 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 identify pathogenic mutations in the ITGB3 gene responsible for thrombocytopenia, enabling accurate diagnosis, risk assessment, personalized treatment strategies, and informed genetic counseling for affected families.
- Test Code
- 2688
- 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 special preparation required. Provide detailed clinical history and family pedigree during genetic counseling.
Method: Venipuncture or FTA card spotting
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. Store and transport the sample as per instructions.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
To identify pathogenic mutations in the ITGB3 gene responsible for thrombocytopenia, enabling accurate diagnosis, risk assessment, personalized treatment strategies, and informed genetic counseling for affected families.
How to Prepare
- Use sterile collection equipment
- Label samples accurately with patient details
- Transport at ambient room temperature
- Avoid hemolysis during blood draw
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for ITGB3 mutations can guide management in neonates with bleeding disorders, preventing complications and informing family planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient sample volume
- Hemolyzed, clotted, or contaminated samples
- Improper labeling or documentation
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of ITGB3 Gene Thrombocytopenia. Genetic counseling and targeted management recommended.
No pathogenic variant detected
ITGB3 mutation not identified. Consider other genetic or non-genetic causes and additional testing.
Variant of uncertain significance (VUS)
Further testing, family studies, and clinical correlation needed for clarification.
If you experience symptoms of bleeding disorders, have a family history of thrombocytopenia, or receive a positive test result, consult a hematologist or geneticist immediately for personalized care.
Limitations
- ⚠May not detect all possible genetic variants or mutations
- ⚠Requires genetic counseling for accurate interpretation
- ⚠Not a substitute for comprehensive clinical evaluation
- ⚠Results may be affected by technical limitations of NGS
Risks & Considerations
- ●Minimal risk from blood draw: bruising, soreness, or rare infection
- ●Potential psychological impact of genetic results, requiring counseling support
Interfering Factors
- ●Hemolyzed or clotted blood samples
- ●Contaminated or degraded DNA
- ●Improper sample storage or transport
Compare With Similar Tests
| Test | ITGB3 Gene Thrombocytopenia, neonatal alloimmune NGS Genetic Test | Platelet Function Test | Coagulation Panel | Whole Exome Sequencing | Platelet Count Test |
|---|---|---|---|---|---|
| Comparison | ITGB3 Gene Thrombocytopenia, neonatal alloimmune NGS Genetic Test | Assesses platelet function in vitro, not the genetic basis of thrombocytopenia. | Evaluates clotting factors and pathways, but does not detect specific gene mutations like ITGB3. | Provides broader genetic analysis across all genes, but is more expensive and time-consuming than targeted NGS. | Measures platelet quantity, not the underlying genetic cause of thrombocytopenia. |
Frequently Asked Questions
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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.
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✓ 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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