MT-CO1 Gene Cytochrome c oxidase 1 deficiency NGS Genetic Test
Short Name: MT-CO1 Gene NGS Test
Also known as: MT-CO1 Gene Mutation Analysis, Cytochrome c Oxidase 1 Deficiency Gene Test, Mitochondrial Complex IV Deficiency NGS Test, COX1 Gene Sequencing
MT-CO1 Gene Cytochrome c oxidase 1 deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Full MT-CO1 Gene Sequencing on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are typically delivered within 3 to 4 weeks after sample reaches the laboratory, as sequence data requires bioinformatics analysis and clinical interpretation.. 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 clinically significant variants in the MT-CO1 gene that are associated with mitochondrial complex IV deficiency. It supports confirmation of a molecular diagnosis, helps differentiate from other mitochondrial diseases, and assists in family studies and reproductive risk assessment.
- Test Code
- 3989
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically delivered within 3 to 4 weeks after sample reaches the laboratory, as sequence data requires bioinformatics analysis and clinical interpretation.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS), Full MT-CO1 Gene Sequencing
Sample Collection
No fasting is required. Please inform your doctor about all medications and supplements. Complete clinical history and a family pedigree chart are necessary before sample collection.
Method: Peripheral venipuncture or FTA card blood spot
Laboratory Analysis
A trained phlebotomist will collect blood from a vein in your arm, or we will guide you for a simple finger-prick FTA card sample. The procedure is usually quick and causes minimal discomfort.
Report Delivery
You can eat, drink, and resume regular activities immediately. Bruising at the puncture site is uncommon and usually resolves within 1-2 days. Our genetic counselor may contact you after the report is ready.
Timeline: Reports are typically delivered within 3 to 4 weeks after sample reaches the laboratory, as sequence data requires bioinformatics analysis and clinical interpretation.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify clinically significant variants in the MT-CO1 gene that are associated with mitochondrial complex IV deficiency. It supports confirmation of a molecular diagnosis, helps differentiate from other mitochondrial diseases, and assists in family studies and reproductive risk assessment.
How to Prepare
- Ensure the doctor's requisition form is complete
- Use an EDTA tube for whole blood sample
- If using FTA card, apply one drop of blood and let it dry for at least 30 minutes
- Label the sample with patient ID and date
- No fasting is required
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"A molecularly confirmed diagnosis of mitochondrial complex IV deficiency can guide prenatal counseling and reproductive options. Pregnant women with an affected family history should discuss recurrence risk and available prenatal or preimplantation genetic testing options with their obstetrician and clinical geneticist."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or hemolyzed blood
- Incorrectly labelled sample
- Inadequate blood volume or insufficient DNA
- FTA card not dried completely
Understanding Your Results
Positive for a pathogenic or likely pathogenic variant
Confirms molecular diagnosis of MT-CO1-related cytochrome c oxidase deficiency; helps guide screening and family counseling.
Negative for a pathogenic variant
Increases the likelihood that MT-CO1 is not the cause; consider broader mitochondrial gene panel.
Variant of uncertain significance (VUS)
More evidence is needed; additional family segregation studies or functional studies may clarify its role.
Heteroplasmy reported
The variant allele fraction may influence phenotype; correlate with clinical and biochemical findings.
Consult a neurologist or clinical geneticist if you or your child have unexplained developmental delay, muscle weakness, seizures, optic atrophy, cardiomyopathy, or multisystem features suggestive of mitochondrial disease. A specialized consultation helps interpret genetic results and plan management.
Limitations
- ⚠NGS targeted to MT-CO1 gene may not detect large mitochondrial deletions, duplications, or rearrangements
- ⚠This test does not evaluate nuclear-encoded COX assembly factors
- ⚠A negative result does not exclude all causes of cytochrome c oxidase deficiency
- ⚠Variants of uncertain significance may require additional family studies
Risks & Considerations
- ●Slight pain or bruising at the blood collection site, Apply pressure; bruising resolves in 1-2 days.
- ●Infection (rare), Use of sterile, single-use equipment.
- ●Emotional impact of receiving genetic results, Genetic counseling is provided before and after the test.
Interfering Factors
- ●Recent allogeneic bone marrow transplant or blood transfusion may affect mitochondrial DNA analysis in leukocytes
- ●Very low heteroplasmy levels may fall below the detection limit
- ●DNA degradation due to improper storage or sample transport
Compare With Similar Tests
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|---|---|---|---|
| Comparison | MT-CO1 Gene Cytochrome c oxidase 1 deficiency NGS Genetic Test |
Frequently Asked Questions
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