MRPS16 Gene Combined oxidative phosphorylation deficiency type 2 NGS Genetic Test
Short Name: MRPS16 Gene COXPHD Type 2 NGS Test
Also known as: COXPHD Type 2, Mitochondrial Complex Deficiency Type 2
MRPS16 Gene Combined oxidative phosphorylation deficiency type 2 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 mutations in the MRPS16 gene that cause Combined Oxidative Phosphorylation Deficiency Type 2, enabling early detection, appropriate treatment planning, and genetic counseling.
- Test Code
- 1933
- 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
No special preparation required. Genetic counseling recommended.
Method: Venipuncture for blood, non-invasive for saliva or FTA card
Laboratory Analysis
Sample collected via venipuncture or non-invasive methods like saliva collection.
Report Delivery
Apply pressure to the puncture site for blood draw. Store sample as instructed.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose mutations in the MRPS16 gene that cause Combined Oxidative Phosphorylation Deficiency Type 2, enabling early detection, appropriate treatment planning, and genetic counseling.
How to Prepare
- Ensure proper labeling of samples
- Follow aseptic techniques
- Transport samples at appropriate temperature
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early diagnosis of MRPS16 gene mutations through NGS testing can significantly improve management outcomes for patients with Combined Oxidative Phosphorylation Deficiency Type 2."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Incorrect sample container
Understanding Your Results
Positive for MRPS16 mutation
Confirms diagnosis of Combined Oxidative Phosphorylation Deficiency Type 2. Genetic counseling and management recommended.
Negative
No mutations detected in MRPS16 gene. Consider other genetic or metabolic causes if symptoms persist.
If test results are positive, or if symptoms persist despite negative results, consult a geneticist or metabolic specialist for comprehensive evaluation.
Limitations
- ⚠Only detects mutations in the MRPS16 gene
- ⚠May not identify all genetic variants
- ⚠Results should be correlated with clinical findings
Risks & Considerations
- ●Minimal risks from blood draw such as bruising or infection
- ●Psychological impact of genetic results
Interfering Factors
- ●Sample contamination
- ●Degraded DNA
- ●Technical errors in sequencing
Compare With Similar Tests
| Test | MRPS16 Gene Combined oxidative phosphorylation deficiency type 2 NGS Genetic Test | Whole Exome Sequencing | Mitochondrial DNA Sequencing |
|---|---|---|---|
| Comparison | MRPS16 Gene Combined oxidative phosphorylation deficiency type 2 NGS Genetic Test |
Frequently Asked Questions
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