COX15 Gene Cardioencephalomyopathy Fatal Infantile Due to Cytochrome C Oxidase Deficiency Type 2 NGS Genetic DNA Test
Comprehensive Introduction to COX15 Gene Testing
The COX15 Gene Cardioencephalomyopathy Fatal Infantile NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for mitochondrial disorders. This specialized examination focuses on identifying mutations in the COX15 gene, which plays a critical role in the assembly of cytochrome c oxidase – complex IV of the mitochondrial respiratory chain. When this gene malfunctions, it leads to cytochrome c oxidase deficiency type 2, a severe condition characterized by combined cardiac and neurological involvement that typically proves fatal in infancy.
This advanced genetic test is particularly important because early detection can provide families with crucial information for medical management and reproductive planning. The test’s significance extends beyond individual diagnosis, offering insights into familial genetic patterns and enabling proactive healthcare decisions for extended family members who may be carriers of the mutation.
What the Test Measures and Detects
Our COX15 Gene NGS Genetic DNA Test employs cutting-edge Next Generation Sequencing technology to comprehensively analyze the COX15 gene for pathogenic variants. The test specifically detects:
- Point mutations, insertions, and deletions in the COX15 gene
- Variants affecting cytochrome c oxidase assembly factor 1 homolog
- Genetic abnormalities that disrupt mitochondrial complex IV function
- Inheritance patterns through detailed genetic analysis
- Carrier status identification in asymptomatic family members
The test provides a complete genetic profile of the COX15 gene, enabling precise diagnosis of cytochrome c oxidase deficiency type 2 and facilitating appropriate medical interventions.
Who Should Consider This Genetic Test
Clinical Indications and Symptoms
This specialized genetic testing is recommended for individuals presenting with specific clinical features or family history patterns:
- Infants with unexplained cardiomyopathy and neurological symptoms
- Patients exhibiting symptoms of mitochondrial disease with cardiac involvement
- Families with history of unexplained infant mortality
- Siblings of affected individuals for carrier screening
- Patients with suspected Leigh syndrome or similar mitochondrial disorders
- Individuals with elevated lactate levels and cardiac abnormalities
Specific Clinical Presentations
The test is particularly indicated for infants showing:
- Progressive hypertrophic cardiomyopathy
- Encephalopathy with developmental regression
- Hypotonia and muscle weakness
- Respiratory chain complex IV deficiency
- Metabolic acidosis and lactic acidosis
- Failure to thrive despite adequate nutrition
Significant Benefits of COX15 Genetic Testing
Undergoing the COX15 Gene NGS Genetic DNA Test provides numerous advantages for patients and families:
- Accurate Diagnosis: Provides definitive genetic confirmation of cytochrome c oxidase deficiency type 2
- Family Planning Guidance: Enables informed reproductive decisions for carrier couples
- Early Intervention: Facilitates timely medical management and supportive care
- Genetic Counseling: Supports comprehensive family risk assessment and counseling
- Research Contribution: Advances understanding of mitochondrial disorders
- Peace of Mind: Reduces diagnostic uncertainty for affected families
Understanding Your Test Results
Interpretation Guidelines
Our comprehensive genetic report provides detailed analysis with clear interpretation:
- Positive Result: Indicates presence of pathogenic COX15 gene mutation confirming diagnosis
- Negative Result: Suggests absence of tested mutations but doesn’t rule out other genetic causes
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals with single mutation copy who are typically asymptomatic
Post-Test Recommendations
Following test completion, we provide:
- Detailed genetic counseling session with our specialists
- Family pedigree analysis and risk assessment
- Referrals to appropriate medical specialists
- Long-term follow-up recommendations
- Support group connections and resources
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | COX15 Gene Cardioencephalomyopathy Fatal Infantile Due to Cytochrome C Oxidase Deficiency Type 2 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) Technology |
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services across the United States with convenient locations in all major metropolitan areas. Our state-of-the-art facilities in New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose ensure accessible testing for families nationwide. Each location maintains the same high standards of genetic testing excellence and patient care.
Take Action Today
Don’t let uncertainty about genetic conditions affect your family’s future. Our specialized COX15 Gene NGS Genetic DNA Test provides the clarity and answers you need for informed healthcare decisions. Our genetic counselors are available to discuss your specific situation and guide you through the testing process.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your appointment or speak with our genetic specialists. Early detection through advanced genetic testing can make a significant difference in managing mitochondrial disorders and planning for your family’s health future.
Our team of board-certified genetic counselors and cardiologists are committed to providing compassionate, comprehensive care throughout your genetic testing journey. We understand the emotional challenges associated with genetic testing and provide supportive, personalized service every step of the way.
