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COA8 Gene Mitochondrial complex IV deficiency NGS Genetic Test

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COA8 Gene Mitochondrial complex IV deficiency NGS Genetic Test

Short Name: COA8 Mitochondrial Complex IV Deficiency Test

Also known as: Mitochondrial Complex IV Deficiency Test, COA8 Gene Analysis, Cytochrome c Oxidase Deficiency Test

COA8 Gene Mitochondrial complex IV 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. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The purpose of this test is to identify mutations in the COA8 gene that cause mitochondrial complex IV deficiency, aiding in diagnosis, management, and genetic counseling for affected individuals and their families.

Test Code
1723
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No specific preparation is required. Ensure accurate patient history is documented and genetic counseling is arranged.

Method: Venipuncture or finger-prick

Step 2

Laboratory Analysis

Collect blood sample using aseptic technique as per standard phlebotomy procedures.

Step 3

Report Delivery

Label the sample correctly with patient details and store at ambient room temperature until shipment.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor to discuss test implications, family history, and consent.
2
During the Test:The sample collection process typically takes 10-15 minutes and is minimally invasive.
3
After the Test:Results will be available within 3 to 4 weeks, and a follow-up consultation is recommended for interpretation.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the COA8 gene that cause mitochondrial complex IV deficiency, aiding in diagnosis, management, and genetic counseling for affected individuals and their families.

How to Prepare

  • Use sterile collection equipment
  • Collect in EDTA tube or on FTA card to avoid hemolysis
  • Handle sample gently to prevent degradation

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Genetic testing for mitochondrial disorders like COA8 deficiency is crucial for early diagnosis and management. This test provides definitive results to guide treatment and genetic counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 ml of blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger-prick

Sample Stability

Stable at room temperature for up to 48 hours
Can be stored at -20°C for long-term preservation
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improperly labeled or contaminated samples

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the COA8 gene associated with mitochondrial complex IV deficiency.
📊

Pathogenic mutation detected

Confirms diagnosis of mitochondrial complex IV deficiency due to COA8 gene mutation, requiring clinical management and genetic counseling.

📊

No pathogenic mutation detected

Reduces the likelihood of COA8-related deficiency but does not rule out other mitochondrial disorders; further testing may be advised.

⚠️ When to Consult a Doctor:

Consult a doctor if symptoms persist or worsen, or if genetic counseling is needed to understand test results and implications for family planning.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Results require clinical correlation
  • ⚠Limited to analysis of the COA8 gene only

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Potential for inconclusive or uncertain results requiring further testing

Interfering Factors

  • ●Sample contamination
  • ●Improper storage conditions
  • ●Hemolyzed blood samples

Compare With Similar Tests

TestCOA8 Gene Mitochondrial complex IV deficiency NGS Genetic Test
ComparisonCOA8 Gene Mitochondrial complex IV deficiency NGS Genetic Test

Frequently Asked Questions

What is COA8 Gene Mitochondrial Complex IV Deficiency?
It is a rare genetic disorder caused by mutations in the COA8 gene, leading to mitochondrial complex IV deficiency and impaired energy production in the body.
What are the common symptoms of this disorder?
Symptoms include muscle weakness, developmental delays, seizures, intellectual disability, abnormal eye movements, stroke-like episodes, hypotonia, and lactic acidosis.
How is the NGS Genetic Test performed?
The test analyzes the COA8 gene using Next-Generation Sequencing (NGS) technology on a blood sample or extracted DNA to identify pathogenic mutations.
What is the cost of the test at DNA Labs India?
The test costs INR 20,000, which includes home sample collection and genetic counseling across India.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection in numerous cities nationwide for added convenience.
How long does it take to receive the test results?
Results are typically delivered within 3 to 4 weeks via online portal, email, or WhatsApp.
What does a positive result indicate?
A positive result confirms the presence of pathogenic mutations in the COA8 gene, aiding in diagnosis and management of mitochondrial complex IV deficiency.
Is genetic counseling included with the test?
Yes, genetic counseling sessions are provided to help understand results, draw pedigree charts, and discuss implications.
Who should consider getting this test?
Individuals with symptoms of mitochondrial disorders, a family history of such conditions, or those referred by a neurologist or geneticist.
Are there any risks associated with the test?
Risks are minimal, primarily related to blood draw, such as minor bruising; genetic testing itself poses no physical risk.
How accurate is the NGS Genetic Test?
The test is highly accurate for detecting mutations in the COA8 gene, but results should be interpreted in conjunction with clinical findings.
Can this test be used for prenatal diagnosis?
This test is primarily for postnatal diagnosis; for prenatal testing, consult a genetic specialist for appropriate options like amniocentesis or CVS.
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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For Hospitals & Clinics

Reference Laboratory Services

We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

LIMS Integration

Your Data Privacy

Your medical data is protected under Indian law.

✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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