MRPL44 Gene Combined oxidative phosphorylation deficiency type 16 NGS Genetic Test
Short Name: COXPD16 NGS Test
Also known as: COXPD16, Combined Oxidative Phosphorylation Deficiency Type 16
MRPL44 Gene Combined oxidative phosphorylation deficiency type 16 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood, Extracted DNA, or One drop Blood on FTA Card samples. Results in 3 to 4 weeks from sample receipt. 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 detect mutations in the MRPL44 gene for the diagnosis of Combined Oxidative Phosphorylation Deficiency Type 16 (COXPD16), a rare mitochondrial disorder.
- Test Code
- 4654
- Price
- ₹20,000
- Sample Type
- Blood, Extracted DNA, or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks from sample receipt
- Fasting Required
- No
- Method
- NGS Technology
Sample Collection
A genetic counseling session is recommended to discuss clinical history and draw a pedigree chart of affected family members.
Method: Venipuncture or FTA card collection
Laboratory Analysis
Blood sample is collected via venipuncture or using an FTA card for DNA preservation.
Report Delivery
The sample is labeled and sent to the laboratory for NGS analysis.
Timeline: 3 to 4 weeks from sample receipt
Patient Instructions
About This Test
Who Should Get This Test
To detect mutations in the MRPL44 gene for the diagnosis of Combined Oxidative Phosphorylation Deficiency Type 16 (COXPD16), a rare mitochondrial disorder.
How to Prepare
- Ensure proper sample labeling with patient details
- Follow aseptic techniques during collection
- Use appropriate containers as specified
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test is crucial for diagnosing rare mitochondrial disorders like COXPD16, enabling early intervention and family planning guidance."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Incorrect sample type or container
Understanding Your Results
Positive
Mutation detected in MRPL44 gene, consistent with diagnosis of COXPD16. Clinical correlation and genetic counseling are advised.
Negative
No pathogenic mutation detected in MRPL44 gene. However, clinical symptoms may require further investigation or alternative diagnoses.
If symptoms such as developmental delays, hypotonia, seizures, or other signs of mitochondrial disorders are present, or if there is a family history of COXPD16.
Limitations
- ⚠May not detect all possible mutations in the MRPL44 gene
- ⚠Requires genetic counseling for accurate interpretation
- ⚠Results should be correlated with clinical findings
Risks & Considerations
- ●Minimal risk associated with blood draw, such as bruising or infection
- ●Potential psychological impact of genetic results
Interfering Factors
- ●Sample contamination
- ●Degraded DNA
- ●Improper sample handling
Frequently Asked Questions
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✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
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