MT-CO3 Gene Mitochondrial complex IV deficiency NGS Genetic Test
Short Name: MT-CO3 Gene NGS Test
Also known as: Cytochrome c Oxidase Deficiency, COX Deficiency, MT-CO3 Related Mitochondrial Disorder, Mitochondrial Complex IV Deficiency NGS Test, Cytochrome c Oxidase Subunit III Deficiency Test
MT-CO3 Gene Mitochondrial complex IV deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Confirmation (if required), Bioinformatics Pipeline Analysis on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Reports are delivered digitally via the Online Portal, Email, and WhatsApp. Urgent processing may be available upon request — contact DNA Labs India for details.. 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 the MT-CO3 Gene Mitochondrial Complex IV Deficiency NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the MT-CO3 gene that cause Cytochrome c Oxidase (Complex IV) deficiency. This test aids in confirming a clinical diagnosis, differentiating Mitochondrial Complex IV Deficiency from other mitochondrial and metabolic disorders, guiding treatment and management decisions, enabling carrier testing for family members, supporting genetic counseling and reproductive planning, and contributing to a better understanding of the patient's prognosis. It is particularly indicated for patients with clinical features suggestive of a mitochondrial disorder including encephalomyopathy, lactic acidosis, progressive neurological decline, or unexplained multisystem disease.
- Test Code
- 1728
- CPT Code
- 81460
- ICD Code
- G71.3
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Reports are delivered digitally via the Online Portal, Email, and WhatsApp. Urgent processing may be available upon request — contact DNA Labs India for details.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger Confirmation (if required), Bioinformatics Pipeline Analysis
Sample Collection
A pre-test genetic counseling session is required to document the clinical history of the patient, draw a pedigree chart of family members affected with Mitochondrial Complex IV Deficiency, discuss the implications of testing, and obtain informed consent. Share detailed clinical and family history with the genetic counselor.
Method: Venipuncture or FTA Card Spot
Laboratory Analysis
A standard venipuncture is performed to collect 3-5 mL of blood in an EDTA (Lavender top) tube. Alternatively, one drop of blood may be applied to an FTA card. The procedure is quick and minimally invasive.
Report Delivery
Apply gentle pressure to the venipuncture site with a cotton ball or gauze. The sample is labeled correctly with patient details and test name. Resume normal activities. The sample is transported at ambient room temperature to the laboratory for processing.
Timeline: Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Reports are delivered digitally via the Online Portal, Email, and WhatsApp. Urgent processing may be available upon request — contact DNA Labs India for details.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the MT-CO3 Gene Mitochondrial Complex IV Deficiency NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the MT-CO3 gene that cause Cytochrome c Oxidase (Complex IV) deficiency. This test aids in confirming a clinical diagnosis, differentiating Mitochondrial Complex IV Deficiency from other mitochondrial and metabolic disorders, guiding treatment and management decisions, enabling carrier testing for family members, supporting genetic counseling and reproductive planning, and contributing to a better understanding of the patient's prognosis. It is particularly indicated for patients with clinical features suggestive of a mitochondrial disorder including encephalomyopathy, lactic acidosis, progressive neurological decline, or unexplained multisystem disease.
How to Prepare
- Schedule a genetic counseling session before sample collection to discuss test implications and provide informed consent.
- No fasting is required prior to sample collection.
- Blood sample (3-5 mL) will be collected via venipuncture in an EDTA Lavender-top tube.
- Alternatively, one drop of blood can be applied directly onto an FTA card.
- Ensure the sample is correctly labeled with patient name, date of collection, and test name.
- Transport the sample at ambient room temperature to the laboratory.
- Free home sample collection is available across India for online bookings.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"As a neurologist, I frequently encounter patients with undiagnosed mitochondrial disorders presenting with complex neurological symptoms such as seizures, encephalopathy, progressive muscle weakness, and developmental regression. The MT-CO3 Gene NGS Genetic Test is an invaluable diagnostic tool that enables a definitive molecular diagnosis of Mitochondrial Complex IV Deficiency. Early identification of pathogenic variants in the MT-CO3 gene allows for targeted clinical management, appropriate anticipatory guidance, personalized treatment strategies, and informed genetic counseling for affected families. I strongly recommend this test for any patient presenting with unexplained encephalomyopathy, lactic acidosis, or progressive neurological decline where a mitochondrial etiology is suspected."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood sample
- Insufficient sample volume (less than 2 mL whole blood)
- Improperly labeled or unlabeled sample
- Sample received without signed informed consent
- Contaminated or compromised FTA card
- Sample collected in incorrect tube type (non-EDTA)
Understanding Your Results
Pathogenic Variant Detected
A known disease-causing mutation in the MT-CO3 gene has been identified. This confirms the genetic basis of Mitochondrial Complex IV Deficiency. Correlation with clinical symptoms is recommended. Genetic counseling, family screening, and personalized management strategies should be discussed with the patient and family.
Likely Pathogenic Variant Detected
A variant that is likely to cause disease has been identified in the MT-CO3 gene. Clinical correlation and family segregation studies are recommended for further confirmation. Genetic counseling is advised to discuss implications and recurrence risk.
Variant of Uncertain Significance (VUS)
A genetic variant has been identified, but there is currently insufficient evidence to determine whether it is pathogenic or benign. This result alone cannot confirm or rule out a diagnosis. Additional testing, family studies, and clinical correlation are recommended. Periodic reclassification of VUS may occur as more data becomes available.
Likely Benign Variant
The variant identified is unlikely to be associated with Mitochondrial Complex IV Deficiency. No specific clinical action is typically required based on this finding. Clinical evaluation for other causes of symptoms should continue if warranted.
No Pathogenic Variant Detected
No known pathogenic or likely pathogenic mutations were identified in the MT-CO3 gene. This does not completely rule out Mitochondrial Complex IV Deficiency, as mutations may exist in other genes involved in Complex IV function or assembly, or may be in regulatory regions not covered by this test. Further clinical and genetic evaluation may be warranted.
Consult your doctor or genetic counselor if you or a family member experiences unexplained muscle weakness, exercise intolerance, developmental delays or regression, sensorineural hearing loss, vision problems or optic atrophy, recurrent seizures, lactic acidosis, or signs of multi-organ dysfunction involving the heart, liver, kidneys, or brain. A positive family history of mitochondrial disorders or unexplained infant/childhood deaths warrants genetic evaluation. Early diagnosis can significantly improve management and outcomes.
Limitations
- ⚠This test specifically analyzes the MT-CO3 gene only; mutations in other mitochondrial or nuclear genes are not covered
- ⚠Large mitochondrial DNA deletions or rearrangements may not be fully detected by targeted NGS
- ⚠Variants of Uncertain Significance (VUS) may be identified and require further investigation
- ⚠Low-level heteroplasmy below approximately 5% may not be reliably detected
- ⚠Nuclear DNA mutations affecting mitochondrial Complex IV function (e.g., in assembly factors) are not assessed by this test
- ⚠Results should always be interpreted in the context of clinical findings and family history by a qualified geneticist or neurologist
Risks & Considerations
- ●Minor bruising or discomfort at the venipuncture site, which typically resolves within a few hours
- ●Minimal risk of infection at the blood draw site (standard aseptic technique is followed)
- ●Psychological or emotional impact of receiving genetic test results, particularly positive results
- ●Identification of Variants of Uncertain Significance (VUS) may cause anxiety and require additional follow-up testing
- ●Risk of incidental findings related to mitochondrial DNA variants not directly associated with Complex IV deficiency
Interfering Factors
- ●Recent blood transfusion (within the past 3 months) may introduce donor DNA and affect results
- ●Prior bone marrow or stem cell transplant may alter the DNA profile
- ●Sample contamination during collection, transport, or processing
- ●Degraded DNA due to improper sample storage or handling
- ●Very low heteroplasmy levels below the detection threshold of NGS
Compare With Similar Tests
| Test | MT-CO3 Gene Mitochondrial complex IV deficiency NGS Genetic Test | Whole Mitochondrial Genome Sequencing NGS Genetic Test | MT-ND1 Gene Mitochondrial Complex I Deficiency NGS Genetic Test | MT-ATP6 Gene Mitochondrial Complex V Deficiency NGS Genetic Test |
|---|---|---|---|---|
| Comparison | MT-CO3 Gene Mitochondrial complex IV deficiency NGS Genetic Test |
Frequently Asked Questions
What is the MT-CO3 Gene Mitochondrial Complex IV Deficiency NGS Genetic Test?
What are the symptoms of Mitochondrial Complex IV Deficiency?
What sample type is required for this genetic test?
Is genetic counseling required before taking this test?
How long does it take to get the results of this test?
What is the cost of the MT-CO3 Gene NGS Genetic Test?
What does a positive result (pathogenic variant detected) mean?
What does a negative result (no pathogenic variant detected) mean?
Is this test available for children and infants?
Can this test be done during pregnancy?
Is home sample collection available for this test?
How accurate is the NGS Genetic Test for MT-CO3?
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