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COA5 Gene Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency type 3 NGS Genetic Test

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COA5 Gene Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency type 3 NGS Genetic Test

COA5 Gene Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency type 3 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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.

Genetic TestInfant🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of this test is to diagnose COA5 gene cardioencephalomyopathy by detecting pathogenic mutations in the COA5 gene using NGS technology, enabling accurate identification and management of this rare genetic disorder.

Test Code
2504
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
NGS Technology
Step 1

Sample Collection

Patient should provide detailed clinical history and undergo genetic counseling to draw a family pedigree chart for accurate assessment.

Step 2

Laboratory Analysis

Your sample is analyzed using NGS Technology in our laboratory.

Step 3

Report Delivery

A certified pathologist reviews and signs your report. You receive it as a secure PDF via email and WhatsApp.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Patient should provide clinical history and undergo genetic counseling to draw a family pedigree chart.

About This Test

Who Should Get This Test

The purpose of this test is to diagnose COA5 gene cardioencephalomyopathy by detecting pathogenic mutations in the COA5 gene using NGS technology, enabling accurate identification and management of this rare genetic disorder.

How to Prepare

  • Provide a blood sample, extracted DNA, or one drop of blood on an FTA card as per instructions.
  • Ensure proper labeling and handling of samples.

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card

Understanding Your Results

Results are interpreted based on the presence or absence of pathogenic mutations in the COA5 gene, with genetic counseling recommended for understanding implications.
📊

Positive for pathogenic variant

Indicates diagnosis of COA5 gene cardioencephalomyopathy; clinical correlation and management advised.

📊

Negative for pathogenic variant

No mutations detected; condition unlikely but clinical evaluation may be needed if symptoms persist.

⚠️ When to Consult a Doctor:

If an infant presents with symptoms such as severe muscle weakness, developmental delays, respiratory issues, or seizures, consult a geneticist or pediatrician promptly.

Risks & Considerations

  • ●Minimal risk associated with blood sample collection, such as slight pain or bruising.
  • ●Genetic counseling is recommended to understand the psychological and familial implications of results.

Frequently Asked Questions

What is COA5 Gene Cardioencephalomyopathy?
It is a rare genetic disorder caused by mutations in the COA5 gene, leading to dysfunction of the cytochrome c oxidase enzyme and resulting in severe heart, brain, and muscle issues in infants.
What are the symptoms of this condition?
Symptoms include severe muscle weakness, developmental delays, brain abnormalities, respiratory problems, feeding difficulties, and seizures.
How is the test performed?
The test uses Next Generation Sequencing (NGS) technology to analyze DNA from blood, extracted DNA, or a blood sample on an FTA card.
What is the cost of the test?
The test costs INR 20000, with free home sample collection available across India.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings in numerous cities across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What does a positive result mean?
A positive result indicates the presence of pathogenic mutations in the COA5 gene, confirming the diagnosis of COA5 gene cardioencephalomyopathy.
Can this test be used for prenatal diagnosis?
This test is primarily for postnatal diagnosis in infants; for prenatal concerns, consult a genetic counselor for appropriate testing options.
Is genetic counseling required?
Yes, genetic counseling is recommended before and after testing to understand the implications and draw a family pedigree chart.
What are the treatment options for this condition?
Treatment is supportive and focuses on managing symptoms; there is no cure, and care is typically coordinated by a multidisciplinary team.
Is the test covered by insurance?
Coverage varies; it is not typically covered under government schemes like PMJAY, but check with private insurers for details.
How accurate is the NGS genetic test?
NGS technology provides high accuracy in detecting genetic variants, but results should be interpreted in conjunction with clinical findings and genetic counseling.
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.

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