MRPS22 Gene Combined oxidative phosphorylation deficiency type 5 NGS Genetic Test
Short Name: MRPS22 Gene NGS Test
Also known as: COXPD5, MRPS22-Related Mitochondrial Disorder
MRPS22 Gene Combined oxidative phosphorylation deficiency type 5 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 from sample collection. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this test is to detect mutations in the MRPS22 gene to diagnose Combined Oxidative Phosphorylation Deficiency Type 5. It helps in confirming clinical suspicion, differentiating from other metabolic disorders, assessing carrier status in family members, and guiding management strategies.
- Test Code
- 1963
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks from sample collection
- Fasting Required
- No
- Method
- NGS Technology
Sample Collection
Provide clinical history and family pedigree chart during genetic counseling session.
Method: Venipuncture or finger-prick
Laboratory Analysis
Blood sample collected via venipuncture or finger-prick onto FTA card by a trained professional.
Report Delivery
Sample is processed in the lab for NGS analysis; results are delivered after 3-4 weeks.
Timeline: 3 to 4 weeks from sample collection
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect mutations in the MRPS22 gene to diagnose Combined Oxidative Phosphorylation Deficiency Type 5. It helps in confirming clinical suspicion, differentiating from other metabolic disorders, assessing carrier status in family members, and guiding management strategies.
How to Prepare
- Ensure sample is collected in a sterile EDTA tube or on an FTA card
- Label the sample with patient details
- Transport at ambient room temperature
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Genetic testing for MRPS22 mutations is crucial for early diagnosis and management of Combined Oxidative Phosphorylation Deficiency Type 5. Consult a genetic counselor to understand family risks and testing options."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Insufficient sample volume
- Incorrect labeling or missing patient information
Understanding Your Results
Consult a genetic counselor or metabolic specialist if results are positive, if symptoms persist despite negative results, or for family planning advice.
Limitations
- ⚠May not detect all types of mutations, such as large deletions or deep intronic variants
- ⚠Results require interpretation by a qualified geneticist
- ⚠Limited to MRPS22 gene; other genes in oxidative phosphorylation pathways are not covered
Risks & Considerations
- ●Minimal risks from blood collection, such as bruising or infection
- ●Psychological impact of genetic results may require counseling
Interfering Factors
- ●Poor sample quality or insufficient DNA
- ●Contamination during sample collection or processing
- ●Technical errors in NGS sequencing
Compare With Similar Tests
| Test | MRPS22 Gene Combined oxidative phosphorylation deficiency type 5 NGS Genetic Test | Whole Exome Sequencing | Mitochondrial DNA Sequencing |
|---|---|---|---|
| Comparison | MRPS22 Gene Combined oxidative phosphorylation deficiency type 5 NGS Genetic Test |
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