SCO1 Gene Hepatic Failure Early Onset and Neurologic Disorder NGS Genetic DNA Test
Comprehensive Genetic Analysis for Mitochondrial Disorders
The SCO1 Gene Hepatic Failure Early Onset and Neurologic Disorder NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying rare mitochondrial conditions that affect both liver function and neurological development. This specialized genetic test utilizes next-generation sequencing technology to provide comprehensive analysis of the SCO1 gene, which plays a critical role in cellular energy production and copper homeostasis within mitochondria.
What This Test Measures and Detects
This advanced genetic test specifically targets mutations in the SCO1 gene, which encodes a protein essential for cytochrome c oxidase assembly in the mitochondrial respiratory chain. The test identifies:
- Pathogenic variants in the SCO1 gene associated with early-onset hepatic failure
- Genetic mutations linked to progressive neurological deterioration
- Inheritance patterns of SCO1-related disorders
- Carrier status for family planning purposes
- Specific genetic markers that influence treatment response
Who Should Consider This Test
This genetic test is particularly recommended for individuals presenting with:
- Infants and young children with unexplained liver failure
- Patients with progressive neurological symptoms alongside hepatic dysfunction
- Family history of mitochondrial disorders or unexplained infant deaths
- Children with developmental delays and liver abnormalities
- Individuals with suspected SCO1 gene mutations based on clinical presentation
Key Symptoms and Clinical Indications
Patients who may benefit from SCO1 gene testing often exhibit:
- Early-onset hepatic failure within the first months of life
- Neurological deterioration including hypotonia and developmental regression
- Metabolic acidosis and lactic acidosis
- Failure to thrive despite adequate nutrition
- Abnormal liver function tests without clear etiology
Benefits of SCO1 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Early Diagnosis: Enables prompt identification of SCO1-related disorders before irreversible damage occurs
- Personalized Treatment: Guides targeted therapeutic interventions based on genetic findings
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Prognostic Information: Helps predict disease progression and potential complications
- Peace of Mind: Offers definitive answers for families facing diagnostic uncertainty
Understanding Your Test Results
Our genetic specialists provide comprehensive interpretation of your SCO1 gene test results:
- Positive Result: Indicates the presence of pathogenic SCO1 gene mutations, confirming the diagnosis and guiding treatment strategies
- Negative Result: Suggests that SCO1 gene mutations are not the cause of symptoms, directing further diagnostic evaluation
- Variant of Uncertain Significance: Identifies genetic changes requiring additional research and clinical correlation
- Carrier Status: Determines if individuals carry one copy of a mutated gene without showing symptoms
Test Pricing Information
| Test Description | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Test Specifications
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Methodology: Next-Generation Sequencing (NGS) Technology
- Specialty: Genetics, Hepatology, Neurology
Pre-Test Requirements
Before scheduling your SCO1 gene test, please ensure:
- Complete clinical history of the patient
- Genetic counseling session to create a detailed family pedigree
- Documentation of affected family members with similar symptoms
- Review of previous diagnostic testing and results
Nationwide Testing Availability
GGC DNA offers comprehensive SCO1 gene testing services across the United States, with convenient locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network of certified genetic counselors and medical professionals ensures accessible, high-quality care for patients nationwide.
Take Action Today
Don’t wait for answers about potential SCO1 gene disorders. Early detection through genetic testing can significantly impact treatment outcomes and quality of life. Our team of genetic specialists is ready to guide you through the testing process and provide comprehensive support.
Book Your SCO1 Gene Test Today: Call or WhatsApp our genetic counseling team at +1(267) 388-9828 to schedule your appointment and take the first step toward definitive diagnosis and personalized care.
