OTC Gene Ornithine transcarbamoylase deficiency NGS Genetic Test
Short Name: OTC Gene NGS Test
Also known as: OTCD Test, OTC Gene Sequencing, Ornithine Transcarbamoylase Deficiency Genetic Test
OTC Gene Ornithine transcarbamoylase deficiency 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 ornithine transcarbamoylase deficiency (OTCD), identify carriers, and guide treatment and family planning through genetic analysis.
- Test Code
- 2196
- 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
Genetic counseling recommended to understand test implications. No special preparation required.
Method: Venipuncture
Laboratory Analysis
A trained phlebotomist will collect a blood sample via venipuncture. For FTA card, a drop of blood is applied.
Report Delivery
Apply pressure to the puncture site to prevent bleeding. Sample is labeled and sent to the laboratory.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose ornithine transcarbamoylase deficiency (OTCD), identify carriers, and guide treatment and family planning through genetic analysis.
How to Prepare
- Use sterile equipment for blood draw
- Ensure proper labeling of samples
- Store blood samples at room temperature if using FTA card
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic diagnosis of OTCD is critical to prevent severe complications like brain damage. Carrier testing aids in family planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient sample volume
- Contaminated or mislabeled samples
- Hemolyzed blood specimens
Understanding Your Results
Normal (No pathogenic variants)
No OTCD-related mutations detected. Low risk for OTCD, but carrier status cannot be ruled out without family history.
Pathogenic variant detected
Diagnosis of OTCD confirmed. Immediate medical management and family counseling recommended.
Variant of uncertain significance (VUS)
Further testing and clinical correlation advised. Genetic counseling for guidance.
Consult a doctor immediately if symptoms like vomiting, lethargy, or seizures occur, or if there is a family history of OTCD. Genetic counseling is advised before and after testing.
Limitations
- ⚠May not detect all types of mutations, such as large deletions
- ⚠Results require interpretation by a genetic specialist
- ⚠False negatives possible in rare cases due to technical limitations
Risks & Considerations
- ●Minor pain or bruising at the blood draw site
- ●Rare risk of infection or hematoma
- ●Psychological impact from results, mitigated by genetic counseling
Interfering Factors
- ●Contaminated or degraded DNA sample
- ●Hemolyzed blood specimens
- ●Incorrect sample storage conditions
Frequently Asked Questions
What is the OTC Gene NGS Genetic Test?
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Reference Laboratory Services
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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