EXT2 Gene Exostoses, multiple, type 2 NGS Genetic Test
Short Name: EXT2 Exostoses Type 2 NGS Test
Also known as: Multiple Exostoses Type 2, EXT2-related exostoses, Hereditary Multiple Osteochondromas Type 2
EXT2 Gene Exostoses, multiple, type 2 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 mutations in the EXT2 gene for accurate diagnosis of hereditary multiple exostoses type 2, enabling appropriate clinical management, genetic counseling, and family planning.
- Test Code
- 4933
- 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
No specific preparation required. Genetic counseling session recommended to discuss test implications and draw a family pedigree chart.
Method: Venipuncture
Laboratory Analysis
A blood sample will be collected via venipuncture from a vein in the arm. Alternatively, extracted DNA or a blood drop on FTA card may be used.
Report Delivery
Apply pressure to the puncture site to prevent bleeding. Resume normal activities. Results will be available in 3 to 4 weeks.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To identify mutations in the EXT2 gene for accurate diagnosis of hereditary multiple exostoses type 2, enabling appropriate clinical management, genetic counseling, and family planning.
How to Prepare
- Ensure proper identification of the patient
- Use sterile collection equipment
- Label samples correctly with patient details
- Transport samples at ambient room temperature
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for EXT2 mutations is crucial for confirming diagnosis, guiding management, and informing family planning in hereditary multiple exostoses."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Insufficient sample volume
- Incorrectly labeled samples
- Contaminated samples
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of hereditary multiple exostoses type 2. Genetic counseling recommended for family implications.
No pathogenic variant detected
Reduces likelihood of EXT2-related exostoses, but clinical symptoms may warrant further investigation.
Variant of uncertain significance
Requires additional family studies or functional analysis for clarification. Genetic counseling advised.
If you experience symptoms such as multiple bony growths, joint pain, or deformities, or if you have a family history of hereditary multiple exostoses, consult a healthcare professional for evaluation and possible genetic testing.
Limitations
- ⚠May not detect all types of mutations, such as large deletions or duplications
- ⚠Requires genetic counseling for interpretation
- ⚠Results may have variants of uncertain significance
- ⚠Does not replace clinical evaluation and imaging studies
Risks & Considerations
- ●Minimal risks from blood draw, such as bruising or infection
- ●Psychological impact of genetic results
- ●Potential for uncertain results requiring further testing
Interfering Factors
- ●Sample contamination
- ●Degraded DNA quality
- ●Hemolyzed blood samples
- ●Improper sample storage
Compare With Similar Tests
| Test | EXT2 Gene Exostoses, multiple, type 2 NGS Genetic Test | EXT1 Gene Exostoses Test | Comprehensive Bone Disorder Panel | Chromosomal Microarray Analysis |
|---|---|---|---|---|
| Comparison | EXT2 Gene Exostoses, multiple, type 2 NGS Genetic Test |
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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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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