COA5 Gene Cardioencephalomyopathy Fatal Infantile Due to Cytochrome C Oxidase Deficiency Type 3 NGS Genetic DNA Test
Comprehensive Introduction to COA5 Gene Testing
The COA5 Gene Cardioencephalomyopathy NGS Genetic DNA Test represents a breakthrough in mitochondrial disorder diagnostics, specifically targeting fatal infantile cardioencephalomyopathy caused by cytochrome c oxidase deficiency type 3. This advanced genetic screening utilizes cutting-edge Next Generation Sequencing technology to identify mutations in the COA5 gene, which plays a critical role in mitochondrial complex IV assembly and function.
Mitochondrial disorders affect approximately 1 in 5,000 individuals worldwide, making early and accurate diagnosis essential for proper clinical management. The COA5 gene encodes a crucial protein involved in the assembly of cytochrome c oxidase, the terminal enzyme in the mitochondrial respiratory chain. Mutations in this gene disrupt cellular energy production, leading to severe multi-system complications that typically manifest in infancy.
What This Test Measures and Detects
Our comprehensive NGS-based test specifically targets:
- Pathogenic variants in the COA5 gene associated with fatal infantile cardioencephalomyopathy
- Mutations causing cytochrome c oxidase deficiency type 3
- Single nucleotide variants, insertions, deletions, and copy number variations
- Both inherited and de novo genetic alterations
The test employs state-of-the-art Next Generation Sequencing technology that provides complete coverage of the COA5 gene coding regions, splice sites, and regulatory elements. This comprehensive approach ensures high detection rates for various mutation types, offering families definitive diagnostic information.
Who Should Consider COA5 Gene Testing
Clinical Indications and Symptoms
This test is recommended for individuals presenting with:
- Infants with unexplained cardiomyopathy and neurological symptoms
- Family history of mitochondrial disorders or sudden infant death
- Clinical features of cytochrome c oxidase deficiency
- Progressive encephalomyopathy with cardiac involvement
- Developmental regression in infancy
- Hypotonia, seizures, and feeding difficulties
- Lactic acidosis and metabolic abnormalities
At-Risk Populations
- Parents with a previously affected child
- Individuals from families with known COA5 mutations
- Couples planning pregnancy with family history of mitochondrial disease
- Infants with suspected mitochondrial respiratory chain defects
Significant Benefits of COA5 Genetic Testing
Undergoing COA5 gene testing provides numerous advantages for patients and families:
- Definitive Diagnosis: Confirms or rules out COA5-related cardioencephalomyopathy
- Early Intervention: Enables prompt initiation of appropriate treatments
- Genetic Counseling: Provides accurate recurrence risk information for family planning
- Clinical Management: Guides appropriate cardiac and neurological care
- Prognostic Information: Helps understand disease progression and outcomes
- Research Contribution: Advances understanding of mitochondrial disorders
Understanding Your Test Results
Our genetic counselors provide comprehensive result interpretation:
Positive Result
A positive result indicates the presence of pathogenic mutations in the COA5 gene. This confirms the diagnosis of fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency type 3. Our team will discuss:
- Specific mutation implications
- Clinical management recommendations
- Family testing options
- Available support resources
Negative Result
A negative result suggests no pathogenic COA5 mutations were detected. However, this doesn’t completely rule out mitochondrial disease, as other genes may be involved. Further testing may be recommended based on clinical presentation.
Variant of Uncertain Significance
If a genetic change of unknown clinical significance is identified, our specialists will provide guidance on monitoring and potential follow-up testing.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | COA5 Gene Cardioencephalomyopathy Fatal Infantile Due to Cytochrome C Oxidase Deficiency Type 3 NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next Generation Sequencing (NGS) |
Pre-Test Requirements and Preparation
Before testing, we require:
- Complete clinical history of the patient
- Genetic counseling session to create a detailed family pedigree
- Documentation of affected family members with similar symptoms
- Informed consent for genetic testing
Nationwide Testing Availability
GGC DNA provides comprehensive genetic testing services across the United States. We have established branches in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network ensures accessible genetic testing and counseling services for families nationwide.
Take Action Today
Don’t wait to get the answers you need for your family’s health. Early diagnosis of COA5-related disorders can significantly impact clinical outcomes and family planning decisions. Our team of genetic specialists is ready to guide you through the testing process and provide comprehensive support.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book the COA5 Gene Cardioencephalomyopathy NGS Genetic DNA Test. Take the first step toward understanding your genetic health and securing your family’s future.
