UQCRC2 Gene Mitochondrial Complex III Deficiency NGS Genetic DNA Test
Comprehensive Genetic Analysis for Mitochondrial Disorders
The UQCRC2 Gene Mitochondrial Complex III Deficiency NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering precise detection of mutations in the UQCRC2 gene that cause mitochondrial complex III deficiency. This rare genetic disorder disrupts the mitochondrial respiratory chain, compromising cellular energy production and leading to progressive neurological deterioration. Our advanced testing methodology provides critical insights for accurate diagnosis and personalized treatment planning.
What This Test Measures and Detects
This sophisticated genetic test specifically targets the UQCRC2 gene, which encodes a crucial subunit of mitochondrial complex III (ubiquinol-cytochrome c reductase). Using Next-Generation Sequencing technology, the test identifies:
- Pathogenic variants and mutations in the UQCRC2 gene
- Single nucleotide polymorphisms affecting mitochondrial function
- Deletions, insertions, and copy number variations
- Genetic markers associated with impaired electron transport chain function
- Inheritance patterns for family risk assessment
Who Should Consider This Test
This genetic test is recommended for individuals presenting with symptoms suggestive of mitochondrial complex III deficiency, including:
- Unexplained neurological deterioration in infancy or childhood
- Progressive muscle weakness and exercise intolerance
- Developmental delays and regression of motor skills
- Metabolic acidosis and lactic acidosis episodes
- Seizures, ataxia, and movement disorders
- Family history of mitochondrial disorders or unexplained infant deaths
- Children with failure to thrive and feeding difficulties
- Individuals with multisystem involvement including neurological, muscular, and metabolic symptoms
Key Benefits of Genetic Testing
Undergoing the UQCRC2 gene test provides numerous advantages for patients and families:
- Accurate Diagnosis: Confirms or rules out mitochondrial complex III deficiency with high precision
- Personalized Treatment: Enables targeted therapeutic interventions and management strategies
- Family Planning: Provides crucial information for reproductive decision-making and prenatal testing
- Early Intervention: Facilitates timely medical management to slow disease progression
- Genetic Counseling: Supports informed family risk assessment and genetic counseling sessions
- Research Contribution: Contributes to scientific understanding of rare mitochondrial disorders
Understanding Your Test Results
Our comprehensive genetic analysis provides detailed insights into your mitochondrial health:
- Positive Result: Indicates the presence of pathogenic UQCRC2 gene mutations, confirming mitochondrial complex III deficiency diagnosis
- Negative Result: Suggests absence of detectable mutations in the UQCRC2 gene, though other genetic causes may need investigation
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Determines if you carry a single copy of a mutated gene, important for family planning decisions
All results are accompanied by detailed interpretation from our board-certified genetic specialists and genetic counselors to ensure complete understanding and appropriate next steps.
Test Pricing Information
| Test Description | Price (USD) |
|---|---|
| UQCRC2 Gene Mitochondrial Complex III Deficiency NGS Genetic DNA Test – Discount Price | $500 |
| UQCRC2 Gene Mitochondrial Complex III Deficiency NGS Genetic DNA Test – Regular Price | $700 |
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more cities. Our state-of-the-art laboratories ensure consistent, reliable results regardless of your location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about mitochondrial disorders affect your quality of life. Our UQCRC2 Gene Mitochondrial Complex III Deficiency NGS Genetic DNA Test provides the clarity and answers you need for informed healthcare decisions. With results available in 3-4 weeks and multiple sample collection options including blood, extracted DNA, or blood spots on FTA cards, getting tested has never been more convenient.
Ready to schedule your genetic test? Call our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic health and securing your family’s future.
