TCIRG1 Gene Osteopetrosis, autosomal recessive type 1 NGS Genetic Test
Short Name: TCIRG1 Osteopetrosis NGS Test
Also known as: Autosomal Recessive Osteopetrosis Type 1, TCIRG1-related Osteopetrosis
TCIRG1 Gene Osteopetrosis, autosomal recessive type 1 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 osteopetrosis, autosomal recessive type 1, by identifying pathogenic mutations in the TCIRG1 gene using next-generation sequencing technology.
- Test Code
- 2454
- 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
Provide clinical history and undergo genetic counseling to draw a pedigree chart.
Method: Venipuncture or finger prick
Laboratory Analysis
Blood sample will be collected via venipuncture or finger prick.
Report Delivery
Apply pressure to the puncture site to stop bleeding.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose osteopetrosis, autosomal recessive type 1, by identifying pathogenic mutations in the TCIRG1 gene using next-generation sequencing technology.
How to Prepare
- Bring identification and prescription
- Inform about any medications
- No fasting required for this test
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic diagnosis of osteopetrosis is vital for managing symptoms and preventing complications like fractures and vision loss."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Insufficient sample volume
- Improperly labeled samples
Understanding Your Results
If you have symptoms of osteopetrosis or a family history, consult a geneticist or orthopedic specialist.
Limitations
- ⚠May not detect all types of mutations
- ⚠Does not assess other genes associated with osteopetrosis
- ⚠Results require clinical correlation
Risks & Considerations
- ●Minor bruising at puncture site
- ●Rare infection risk
Interfering Factors
- ●Sample contamination
- ●Degraded DNA
- ●Hemolyzed blood sample
Frequently Asked Questions
What is the TCIRG1 Gene Osteopetrosis NGS Test?
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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.
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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