EARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 12 NGS Genetic DNA Test
Comprehensive Genetic Testing for Mitochondrial Disorders
The EARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 12 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying rare metabolic disorders affecting mitochondrial function. This specialized genetic test utilizes Next-Generation Sequencing (NGS) technology to analyze the EARS2 gene, which plays a critical role in mitochondrial protein synthesis and energy production within cells.
What This Test Measures and Detects
This advanced genetic test specifically targets mutations in the EARS2 gene that are responsible for Combined Oxidative Phosphorylation Deficiency Type 12 (COXPD12). The test examines:
- Point mutations, deletions, and insertions in the EARS2 gene
- Variants affecting mitochondrial aminoacyl-tRNA synthetase function
- Genetic abnormalities disrupting oxidative phosphorylation pathways
- Inheritance patterns and carrier status for family members
Who Should Consider This Test
This genetic test is recommended for individuals presenting with symptoms suggestive of mitochondrial disorders, including:
- Infants and children with unexplained neurological deterioration
- Patients experiencing developmental delays or regression
- Individuals with lactic acidosis or metabolic abnormalities
- Those with family history of mitochondrial disorders
- Patients with unexplained muscle weakness or exercise intolerance
- Children with failure to thrive and feeding difficulties
- Individuals with seizures or movement disorders of unknown origin
Benefits of Genetic Testing
Undergoing the EARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 12 test provides numerous advantages:
- Accurate Diagnosis: Provides definitive identification of COXPD12
- Personalized Treatment: Enables targeted therapeutic approaches
- Family Planning: Informs reproductive decisions and genetic counseling
- Early Intervention: Facilitates timely management strategies
- Prognostic Information: Helps predict disease progression and outcomes
- Research Contribution: Advances understanding of rare metabolic disorders
Understanding Your Test Results
Your genetic test results will be thoroughly explained by our certified genetic counselors. Possible outcomes include:
- Positive Result: Identifies pathogenic variants in the EARS2 gene confirming COXPD12 diagnosis
- Negative Result: No disease-causing variants detected, though other genetic causes may need investigation
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Identifies individuals who carry one copy of a mutated gene but may not show symptoms
Test Pricing Information
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network ensures accessible genetic testing services for patients throughout the country.
Take the Next Step Toward Genetic Clarity
If you or your loved one is experiencing symptoms that may indicate Combined Oxidative Phosphorylation Deficiency Type 12, don’t wait to get answers. Our comprehensive genetic testing provides the clarity needed for proper diagnosis and management. Contact us today to schedule your test and consultation with our expert genetic counseling team.
Call or WhatsApp us at +1(267) 388-9828 to book your EARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 12 NGS Genetic DNA Test today!
