PET100 Gene Mitochondrial Complex IV Deficiency NGS Genetic DNA Test
Comprehensive Introduction to Mitochondrial Complex IV Deficiency Testing
The PET100 Gene Mitochondrial Complex IV Deficiency NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering unprecedented accuracy in identifying mitochondrial disorders. Mitochondrial complex IV deficiency is a rare but serious condition affecting the electron transport chain, crucial for cellular energy production. This specialized test targets the PET100 gene, which plays a vital role in assembling complex IV of the mitochondrial respiratory chain. When mutations occur in this gene, they disrupt cellular energy metabolism, leading to progressive neurological deterioration and multi-system involvement.
At General Genetics Corporation, we utilize state-of-the-art Next Generation Sequencing (NGS) technology to provide comprehensive analysis of the PET100 gene. Our advanced testing methodology ensures high sensitivity and specificity, enabling early detection and intervention for patients suffering from mitochondrial complex IV deficiency. This test is particularly important because mitochondrial disorders often present with non-specific symptoms that can be challenging to diagnose through conventional methods.
What the PET100 Gene Test Measures and Detects
This sophisticated genetic test specifically analyzes the PET100 gene for pathogenic variants that cause mitochondrial complex IV deficiency. The test detects:
- Point mutations, insertions, and deletions in the PET100 gene
- Variants affecting complex IV assembly and function
- Inheritance patterns of mitochondrial disorders
- Genetic markers associated with respiratory chain deficiencies
- Novel mutations through comprehensive gene sequencing
The NGS technology employed in this test provides complete coverage of the PET100 gene coding regions, splice sites, and regulatory elements. This comprehensive approach ensures that even rare or novel mutations are identified, providing patients and healthcare providers with complete genetic information for accurate diagnosis and management.
Who Should Consider PET100 Gene Testing
Clinical Indications and Symptoms
This test is recommended for individuals presenting with symptoms suggestive of mitochondrial complex IV deficiency, including:
- Infants and children with developmental delays or regression
- Patients experiencing progressive muscle weakness and fatigue
- Individuals with unexplained metabolic acidosis
- Patients with neurological symptoms including seizures and ataxia
- Those with family history of mitochondrial disorders
- Individuals with multi-system involvement affecting brain, muscle, and heart function
- Patients with elevated lactate levels in blood or cerebrospinal fluid
High-Risk Populations
The test is particularly important for:
- Children with Leigh syndrome or similar neurodegenerative conditions
- Patients with unexplained encephalopathy
- Individuals with suspected mitochondrial disease based on clinical presentation
- Families seeking genetic counseling for reproductive planning
Significant Benefits of PET100 Gene Testing
Undergoing the PET100 Gene Mitochondrial Complex IV Deficiency NGS Genetic DNA Test provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Provides definitive genetic confirmation of mitochondrial complex IV deficiency
- Early Intervention: Enables timely treatment and management strategies
- Family Planning: Offers crucial information for genetic counseling and reproductive decisions
- Personalized Treatment: Guides development of targeted therapeutic approaches
- Prognostic Information: Helps predict disease progression and outcomes
- Research Contribution: Contributes to advancing understanding of mitochondrial disorders
Understanding Your Test Results
Our comprehensive genetic counseling services help patients and families understand their PET100 gene test results:
Positive Results
A positive result indicates the presence of pathogenic variants in the PET100 gene associated with mitochondrial complex IV deficiency. Our genetic counselors will:
- Explain the specific mutation and its implications
- Discuss inheritance patterns and family risk
- Provide guidance on management and treatment options
- Coordinate with neurologists and other specialists
Negative Results
A negative result suggests that no pathogenic variants were detected in the PET100 gene. 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 (VUS)
In some cases, genetic variants of unknown clinical significance may be identified. Our team provides ongoing monitoring and reclassification as new research emerges.
Test Pricing and Availability
| Price Type | Amount (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
- Technology: Next Generation Sequencing (NGS)
- Specialty: Neurology and Genetics
Nationwide Testing Availability
General Genetics Corporation has testing facilities 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 neurological specialists ensures comprehensive care regardless of your location.
Pre-Test Requirements and Preparation
Before undergoing the PET100 Gene Mitochondrial Complex IV Deficiency NGS Genetic DNA Test, patients should:
- Provide complete clinical history and symptom documentation
- Participate in a genetic counseling session
- Complete a pedigree chart documenting family members affected by mitochondrial disorders
- Discuss testing implications with their neurologist or genetic specialist
Take Action Today – Book Your Test
Don’t let uncertainty about mitochondrial disorders affect your quality of life. The PET100 Gene Mitochondrial Complex IV Deficiency NGS Genetic DNA Test provides the clarity needed for proper diagnosis and management. Our team of genetic specialists and neurologists is ready to help you understand your genetic health and make informed decisions.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your test or speak with our genetic counseling team. Take the first step toward understanding your mitochondrial health and securing your neurological future.
Early detection through comprehensive genetic testing can significantly impact treatment outcomes and quality of life for individuals with mitochondrial complex IV deficiency. Trust General Genetics Corporation for accurate, reliable, and compassionate genetic testing services.
