GTPBP3 Gene Combined oxidative phosphorylation deficiency type 23 NGS Genetic Test
Also known as: COXPD23, GTPBP3 gene disorder
GTPBP3 Gene Combined oxidative phosphorylation deficiency type 23 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 Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
To diagnose combined oxidative phosphorylation deficiency type 23 (COXPD23) by identifying pathogenic mutations in the GTPBP3 gene using next-generation sequencing.
- Test Code
- 1939
- 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 clinical history and family pedigree.
Method: Venipuncture or FTA card collection
Laboratory Analysis
Sample collected via blood draw or FTA card.
Report Delivery
No special care needed.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose combined oxidative phosphorylation deficiency type 23 (COXPD23) by identifying pathogenic mutations in the GTPBP3 gene using next-generation sequencing.
How to Prepare
- Use sterile technique for blood draw
- Apply sample to FTA card if applicable
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient sample
- Hemolyzed blood sample
Understanding Your Results
If symptoms persist or if there is a family history of mitochondrial disorders, consult a geneticist or neurologist.
Limitations
- ⚠May not detect all types of mutations
- ⚠Results require clinical correlation
Risks & Considerations
- ●Minimal risk from blood draw
- ●Potential for inconclusive results
Interfering Factors
- ●Sample quality
- ●Contamination
Frequently Asked Questions
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