TRMT5 Gene Combined oxidative phosphorylation deficiency type 26 NGS Genetic Test
Short Name: TRMT5 COXPD26 NGS Test
Also known as: COXPD26, Combined oxidative phosphorylation deficiency type 26
TRMT5 Gene Combined oxidative phosphorylation deficiency type 26 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 diagnose Combined oxidative phosphorylation deficiency type 26 (COXPD26) by detecting pathogenic variants in the TRMT5 gene using NGS technology.
- Test Code
- 4658
- 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
Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with COXPD26.
Method: Venipuncture or blood drop
Laboratory Analysis
Standard blood collection procedure.
Report Delivery
Sample is processed for DNA extraction and NGS analysis.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose Combined oxidative phosphorylation deficiency type 26 (COXPD26) by detecting pathogenic variants in the TRMT5 gene using NGS technology.
How to Prepare
- Use sterile equipment
- Label samples correctly
- Transport at ambient temperature
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for COXPD26 can guide management, family planning, and improve patient outcomes through timely intervention."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed samples
- Insufficient sample volume
- Improper labeling
Understanding Your Results
If symptoms of COXPD26 are present or there is a family history of mitochondrial disorders.
Limitations
- ⚠May not detect all genetic variants
- ⚠Results require clinical correlation
Risks & Considerations
- ●Minimal risk from blood draw
- ●Possible bruising or infection at collection site
Interfering Factors
- ●Sample contamination
- ●Degraded DNA quality
Frequently Asked Questions
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