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MT-CO2 Gene Cytochrome c oxidase 2 deficiency NGS Genetic Test

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MT-CO2 Gene Cytochrome c oxidase 2 deficiency NGS Genetic Test

Short Name: MT-CO2 NGS Test

Also known as: MT-CO2-related cytochrome c oxidase deficiency, MT-CO2-related mitochondrial complex IV deficiency, COX deficiency due to MT-CO2 mutation

MT-CO2 Gene Cytochrome c oxidase 2 deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Sanger sequencing for confirmation if required on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks from receipt of the sample at the laboratory. Free home collection in 300+ cities across India.

Genetic TestingAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

The purpose of this test is to identify pathogenic or likely pathogenic variants in the MT-CO2 gene in patients with clinical suspicion of cytochrome c oxidase 2 deficiency. A molecular diagnosis can help confirm the condition, explain the clinical picture, guide management and provide a basis for genetic counselling and family planning.

Test Code
3991
CPT Code
Not applicable
ICD Code
Not applicable
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks from receipt of the sample at the laboratory
Fasting Required
No
Method
Next Generation Sequencing (NGS), Sanger sequencing for confirmation if required
Step 1

Sample Collection

A pre-test genetic counselling session is required to draw a pedigree of family members affected with MT-CO2-related cytochrome c oxidase deficiency. No fasting is required.

Method: Peripheral blood collection or one drop blood on FTA card

Step 2

Laboratory Analysis

A peripheral blood sample is collected in an EDTA tube. For FTA card samples, one drop of blood is placed on the specified marked area.

Step 3

Report Delivery

No special precautions are needed after sample collection. The patient can resume normal activities immediately.

Timeline: 3 to 4 weeks from receipt of the sample at the laboratory

Patient Instructions

1
Before the Test:Attend a genetic counselling session and provide a complete medical and family history. No dietary restrictions or medication changes are required unless advised by the referring doctor.
2
During the Test:A small blood sample will be collected by a trained phlebotomist. If using an FTA card, a finger prick will be enough to place one drop of blood on the card.
3
After the Test:No activity restrictions are necessary. The laboratory will process the sample and reports are expected within 3 to 4 weeks.

About This Test

Who Should Get This Test

The purpose of this test is to identify pathogenic or likely pathogenic variants in the MT-CO2 gene in patients with clinical suspicion of cytochrome c oxidase 2 deficiency. A molecular diagnosis can help confirm the condition, explain the clinical picture, guide management and provide a basis for genetic counselling and family planning.

How to Prepare

  • No fasting is required for this test.
  • Please carry a valid ID and any clinical referral notes.
  • Pre-test genetic counselling is recommended.
  • EDTA blood, extracted DNA or FTA card blood spots are acceptable sample types.
  • The sample should be transported to the laboratory without delay.

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"For families with a confirmed MT-CO2-related mitochondrial disorder, discussion of recurrence risk, prenatal testing options and reproductive planning is an important part of genetic counselling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2 mL whole blood OR 5 µg extracted DNA OR one drop blood on FTA card
ContainerEDTA vacutainer OR sterile DNA collection tube OR FTA card
Collection MethodPeripheral blood collection or one drop blood on FTA card

Sample Stability

Whole blood in EDTA tube: 48 to 72 hours at ambient temperature
Extracted DNA: 7 days at 2 to 8°C
FTA card blood spot: stable for several months at room temperature
Sample Rejection Criteria:
  • Clotted or hemolyzed blood sample
  • Wrong anticoagulant tube such as heparin
  • Unlabelled or mislabelled sample
  • Sample transported more than 72 hours without proper storage
  • Insufficient DNA quantity or quality

Understanding Your Results

This test is interpreted by clinical geneticists and correlated with the patient's clinical presentation. Genetic counselling is recommended for all individuals undergoing this test.
📊

Pathogenic or likely pathogenic variant detected

The result is consistent with MT-CO2-related cytochrome c oxidase 2 deficiency. Clinical correlation is required.

📊

No pathogenic variant detected

An MT-CO2-related cause is less likely. Other mitochondrial or nuclear gene causes should be considered if clinical suspicion remains.

📊

Variant of uncertain significance identified

Current evidence is insufficient to determine whether the variant is disease-causing. This is not a diagnostic result.

⚠️ When to Consult a Doctor:

Consult a neurologist or clinical geneticist if you or your child have unexplained muscle weakness, breathing difficulty, developmental delay or regression, recurrent metabolic crises, lactic acidosis or a known family history of mitochondrial disease.

Limitations

  • ⚠This test covers the MT-CO2 gene only and does not analyze other mitochondrial or nuclear genes.
  • ⚠Large mitochondrial DNA deletions or rearrangements may not be reliably detected by this NGS method.
  • ⚠Low-level heteroplasmy may fall below the analytical sensitivity of the assay.
  • ⚠A negative result does not exclude mitochondrial disease when clinical suspicion is high.
  • ⚠Variants of uncertain significance may require additional family studies or functional testing.

Risks & Considerations

  • ●Minimal risk of pain or bruising at the blood collection site
  • ●Possible anxiety while waiting for genetic results
  • ●Risk of identifying a variant of uncertain significance
  • ●Psychological impact of a confirmed genetic diagnosis in the family

Interfering Factors

  • ●Poor DNA quality or low DNA concentration
  • ●Sample contamination or sample mix-up
  • ●Low-level heteroplasmy below the detection threshold of the assay
  • ●Presence of nuclear mitochondrial pseudogenes

Compare With Similar Tests

TestMT-CO2 Gene Cytochrome c oxidase 2 deficiency NGS Genetic Test
ComparisonMT-CO2 Gene Cytochrome c oxidase 2 deficiency NGS Genetic Test

Frequently Asked Questions

What is MT-CO2 gene cytochrome c oxidase 2 deficiency?
It is a rare mitochondrial disorder caused by mutations in the MT-CO2 gene. This gene provides instructions for a protein that is part of cytochrome c oxidase, also called complex IV, which is essential for energy production in cells.
What are the common symptoms of cytochrome c oxidase 2 deficiency?
Common symptoms include muscle weakness, fatigue, breathing difficulty, developmental delay, loss of intellectual function, heart problems and exercise intolerance. Symptoms vary depending on the severity of the condition.
How is the MT-CO2 gene NGS test performed?
The test is performed using Next Generation Sequencing technology on blood, extracted DNA or FTA card blood spot samples. The MT-CO2 gene is sequenced and compared with the reference mitochondrial genome to identify mutations.
Is fasting required before this genetic test?
No, fasting is not required for the MT-CO2 gene NGS genetic test.
What sample types are accepted for this test?
The accepted sample types are blood in an EDTA tube, extracted DNA, or one drop of blood on an FTA card.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings for this test across major cities in India.
What is the cost of the MT-CO2 gene NGS genetic test?
The special discounted price for this test is INR 20,000.
When will I receive the test report?
The test reports are generally available within 3 to 4 weeks after the laboratory receives the sample.
Will I receive raw data files with my report?
Yes, DNA Labs India is transparent and provides raw data, FASTQ and VCF files along with the conclusive clinical report.
Who should undergo this genetic test?
People with unexplained mitochondrial symptoms such as myopathy, exercise intolerance, developmental delay, lactic acidosis or a family history of MT-CO2-related disease should consult a neurologist or geneticist for testing.
Is genetic counselling included in this test?
Yes, pre-test genetic counselling is part of the process and includes drawing a pedigree chart of affected family members.
Can this test detect all mitochondrial disorders?
No, this test specifically analyzes the MT-CO2 gene. Other mitochondrial or nuclear genes may require a comprehensive mitochondrial panel or whole mitochondrial genome sequencing.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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