SCO2 Gene Cardioencephalomyopathy Fatal Infantile Due to Cytochrome C Oxidase Deficiency NGS Genetic DNA Test
Comprehensive Introduction to SCO2 Gene Testing
The SCO2 Gene Cardioencephalomyopathy Fatal Infantile Due to Cytochrome C Oxidase Deficiency NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare mitochondrial disorders. This specialized test focuses on identifying mutations in the SCO2 gene, which plays a critical role in the assembly of cytochrome c oxidase – a vital component of the mitochondrial respiratory chain. When this gene malfunctions, it leads to a devastating condition characterized by combined cardiac and neurological deterioration in infants, typically proving fatal within the first year of life.
Understanding the genetic basis of this condition is paramount for affected families, as it provides crucial information for medical management, family planning, and potential therapeutic interventions. The test’s importance extends beyond immediate diagnosis, offering insights that can guide treatment strategies and help families make informed decisions about future pregnancies.
What the Test Measures and Detects
This advanced genetic test utilizes Next-Generation Sequencing (NGS) technology to comprehensively analyze the SCO2 gene for pathogenic variants. The test specifically detects:
- Point mutations in the SCO2 gene coding regions
- Small insertions and deletions affecting gene function
- Variants that disrupt cytochrome c oxidase assembly
- Autosomal recessive inheritance patterns
- Specific mutations known to cause fatal infantile cardioencephalomyopathy
The SCO2 gene encodes a protein essential for the proper assembly of mitochondrial complex IV (cytochrome c oxidase). Mutations in this gene lead to impaired oxidative phosphorylation, resulting in energy deficiency that particularly affects high-energy-demand tissues like the heart and brain.
Who Should Consider This Genetic Test
This test is recommended for individuals and families in specific clinical scenarios:
Clinical Indications and Symptoms
- Infants presenting with hypertrophic cardiomyopathy and neurological symptoms
- Children with unexplained lactic acidosis and respiratory chain dysfunction
- Families with a history of unexplained infant deaths due to cardiac or neurological causes
- Siblings of affected individuals for carrier screening
- Parents planning future pregnancies after having an affected child
- Patients with suspected mitochondrial disorders showing cardiac involvement
Specific Symptoms Warranting Testing
- Progressive hypertrophic cardiomyopathy in infancy
- Neurological deterioration including hypotonia and developmental delay
- Respiratory insufficiency requiring mechanical ventilation
- Metabolic acidosis and elevated lactate levels
- Failure to thrive despite adequate nutrition
- Family history of similar presentations in multiple generations
Significant Benefits of SCO2 Gene Testing
Undergoing this genetic test provides multiple crucial advantages for patients and families:
- Early Diagnosis: Enables prompt identification of the underlying genetic cause, allowing for timely medical interventions
- Accurate Prognosis: Provides clear understanding of disease progression and expected outcomes
- Family Planning Guidance: Offers essential information for reproductive decisions and genetic counseling
- Targeted Management: Helps healthcare providers develop specific treatment strategies based on genetic findings
- Carrier Detection: Identifies asymptomatic carriers within families for comprehensive genetic assessment
- Research Contribution: Adds to the growing body of knowledge about rare mitochondrial disorders
Understanding Your Test Results
Interpreting SCO2 gene test results requires careful consideration by genetic specialists:
Possible Result Interpretations
- Positive Result: Identification of pathogenic variants in both SCO2 gene copies confirms diagnosis of autosomal recessive cardioencephalomyopathy
- Carrier Status: Detection of a single pathogenic variant indicates carrier status with no clinical symptoms
- Negative Result: No pathogenic variants detected, though other genetic causes should be considered if clinical suspicion remains
- Variant of Uncertain Significance: Identification of genetic changes with unknown clinical impact requiring further evaluation
Post-Test Guidance
All positive results should be followed by comprehensive genetic counseling to discuss implications for the patient and family members. Our genetic counselors provide detailed explanations of inheritance patterns, recurrence risks, and available management options.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Additional Test Information
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Pre-test Requirements: Clinical History and Genetic Counseling Session
- Specialty: Cardiologist and Genetics Department
- Method: NGS Technology
- Disease Category: Cardiovascular Pneumology Disorders
Nationwide Testing Availability
We have branches across all major cities in the United States, including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our comprehensive network ensures that patients nationwide have access to this critical genetic testing service.
Take Action Today
Don’t wait to get the answers you need for your family’s health. Early genetic testing can provide crucial information for managing this rare condition and making informed healthcare 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 SCO2 Gene Cardioencephalomyopathy Fatal Infantile Due to Cytochrome C Oxidase Deficiency NGS Genetic DNA Test. Take the first step toward understanding your genetic health and securing your family’s future.
