MT-CO3 Gene Cytochrome c oxidase 3 deficiency NGS Genetic Test
Short Name: MT-CO3 COX3 NGS Test
Also known as: COX3 deficiency NGS test, MT-CO3 mitochondrial gene test, Cytochrome c oxidase 3 deficiency genetic test
MT-CO3 Gene Cytochrome c oxidase 3 deficiency 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 after the sample reaches the laboratory.. 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
The purpose of this test is to identify pathogenic sequence variants in the MT-CO3 gene that cause cytochrome c oxidase 3 deficiency. The result can confirm a clinical diagnosis of mitochondrial complex IV deficiency, guide medical management, enable family screening, and provide information for recurrence risk and reproductive planning.
- Test Code
- 3990
- CPT Code
- Not applicable
- ICD Code
- Not assigned
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No fasting is required. A genetic counselling session is recommended before testing to draw a pedigree chart and document the clinical history of the patient and family members. Patients should carry previous neurological, biochemical, or muscle biopsy reports if available.
Method: Venipuncture / dried blood spot on FTA card / submission of extracted DNA
Laboratory Analysis
A blood sample is collected by a trained phlebotomist. For FTA card samples, a few drops of blood are placed on the designated card and allowed to dry. If extracted DNA is being submitted, the tube must be clearly labelled with the patient's identity and requisition details.
Report Delivery
No special precautions are needed after sample collection. Patients can resume normal activities immediately. The sample is transported to the laboratory under appropriate conditions, and the report is shared within 3 to 4 weeks.
Timeline: 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify pathogenic sequence variants in the MT-CO3 gene that cause cytochrome c oxidase 3 deficiency. The result can confirm a clinical diagnosis of mitochondrial complex IV deficiency, guide medical management, enable family screening, and provide information for recurrence risk and reproductive planning.
How to Prepare
- Inform the collection technician if you have a bleeding disorder or are taking anticoagulant medication.
- Ensure all patient details on the requisition form exactly match the sample label.
- FTA card samples must be air-dried completely before sealing in the provided pouch.
- Extracted DNA samples should be kept cold and transported in dry ice if possible.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Mitochondrial disorders are often multisystem. A detailed family history and maternal inheritance assessment help in interpreting MT-CO3 genetic test results."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted, hemolyzed, or contaminated blood sample
- Insufficient sample volume or low DNA yield
- Improperly labelled or unlabelled sample
- FTA card that is wet, mouldy, or exposed to extreme heat
Understanding Your Results
Pathogenic or likely pathogenic variant detected in MT-CO3
Consistent with MT-CO3-related cytochrome c oxidase 3 deficiency. Genetic counselling and family testing are strongly recommended.
Variant of uncertain significance (VUS) detected
Does not confirm or exclude the diagnosis. Additional testing, segregation analysis, and specialist evaluation may be needed.
No pathogenic MT-CO3 variant detected
Reduces the likelihood of MT-CO3-related disease but does not exclude other mitochondrial or nuclear causes. Broader genetic testing may be considered.
Consult a clinical geneticist, neurologist, or mitochondrial medicine specialist if you have unexplained muscle weakness, developmental delay, seizures, hearing loss, vision problems, or a family history of mitochondrial disease.
Limitations
- ⚠This targeted NGS test covers the mitochondrial MT-CO3 gene only; it does not evaluate other mitochondrial or nuclear-encoded genes.
- ⚠Large mitochondrial DNA deletions or rearrangements may not be reliably detected by this targeted assay.
- ⚠Low-level heteroplasmy can be missed and may require complementary methods such as allele-specific PCR or long-read sequencing.
- ⚠A variant of uncertain significance does not confirm or exclude the diagnosis and may require additional family studies or functional assays.
Risks & Considerations
- ●Mild pain or discomfort at the venipuncture site
- ●Small bruising or bleeding at the puncture site
- ●Very low risk of infection when standard sterile technique is used
Interfering Factors
- ●Poor DNA quality or quantity due to improper sample storage
- ●Contamination of the blood sample or FTA card
- ●Low-level heteroplasmy falling below the analytical sensitivity of the assay
- ●Presence of nuclear donor DNA in DNA extracted from certain samples
Compare With Similar Tests
| Test | MT-CO3 Gene Cytochrome c oxidase 3 deficiency NGS Genetic Test | Mitochondrial Genome NGS Genetic Test | Nuclear Mitochondrial Panel NGS Genetic Test | Single-Gene MT-CO3 Sanger Sequencing |
|---|---|---|---|---|
| Comparison | MT-CO3 Gene Cytochrome c oxidase 3 deficiency NGS Genetic Test | Sequences the entire mitochondrial genome rather than only the MT-CO3 gene. Useful when the clinical suspicion is broad. | Analyses nuclear genes encoding mitochondrial proteins, including COX assembly factors, which may cause similar clinical presentations. | Sanger sequencing can confirm specific known familial variants but has lower sensitivity for heteroplasmy and is not appropriate for initial screening. |
Frequently Asked Questions
What is the MT-CO3 gene?
What is cytochrome c oxidase 3 deficiency?
What are the common symptoms of MT-CO3 deficiency?
How is MT-CO3 gene cytochrome c oxidase 3 deficiency diagnosed?
What is the cost of this NGS genetic test?
What is NGS technology?
Does this test detect nuclear gene mutations?
What is heteroplasmy in mitochondrial disease?
What does a positive test result mean?
What does a negative test result mean?
Is fasting required for this test?
How long does it take to get the report?
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