VARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 20 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Mitochondrial Disorders
The VARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 20 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the VARS2 gene, which plays a critical role in mitochondrial function and cellular energy production. This specialized test utilizes advanced Next-Generation Sequencing technology to provide comprehensive analysis of genetic variations associated with this rare metabolic condition.
What Does This Test Measure?
This sophisticated genetic test specifically targets and analyzes the VARS2 gene, which encodes mitochondrial valyl-tRNA synthetase. The test detects:
- Pathogenic variants and mutations in the VARS2 gene sequence
- Single nucleotide polymorphisms (SNPs) affecting mitochondrial function
- Deletions, insertions, and other structural variations
- Variants that disrupt mitochondrial protein synthesis
- Genetic markers associated with impaired oxidative phosphorylation
Who Should Consider This Test?
Clinical Indications and Symptoms
This genetic test is recommended for individuals presenting with symptoms suggestive of mitochondrial disorders, including:
- Infants and children with developmental delays or regression
- Patients with neurological symptoms such as seizures, ataxia, or hypotonia
- Individuals with metabolic abnormalities including lactic acidosis
- Patients with failure to thrive or growth retardation
- Those with family history of mitochondrial disorders
- Cases of unexplained encephalopathy or Leigh syndrome features
Benefits of VARS2 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out Combined Oxidative Phosphorylation Deficiency Type 20
- Family Planning: Enables informed reproductive decisions for at-risk families
- Personalized Management: Guides targeted treatment and monitoring strategies
- Early Intervention: Facilitates timely therapeutic interventions
- Genetic Counseling: Provides basis for comprehensive family genetic counseling
- Research Contribution: Contributes to understanding of rare mitochondrial disorders
Understanding Your Test Results
Interpretation Guidelines
Your genetic test results will be carefully analyzed and interpreted by our team of certified genetic specialists:
- Positive Result: Indicates the presence of pathogenic VARS2 gene variants associated with Combined Oxidative Phosphorylation Deficiency Type 20
- Negative Result: Suggests absence of known disease-causing mutations in the VARS2 gene
- Variant of Uncertain Significance: Identifies genetic changes whose clinical impact requires further investigation
- Carrier Status: Determines if an individual carries one copy of a mutated gene
All results include detailed explanations and recommendations for next steps, with genetic counseling available to help you understand the implications for your health and family.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | VARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 20 NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements
To ensure accurate testing and comprehensive care, we recommend:
- Complete clinical history of the patient
- Genetic counseling session prior to testing
- Development of family pedigree chart documenting affected relatives
- Discussion of testing implications with healthcare provider
Nationwide Testing Availability
GGC DNA provides comprehensive genetic testing services across the United States, with convenient locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art laboratories and certified genetic counselors ensure you receive the highest quality care and accurate results.
Take Control of Your Genetic Health
Don’t wait to get the answers you need about potential mitochondrial disorders. Our specialized VARS2 gene testing provides crucial information for diagnosis and management of Combined Oxidative Phosphorylation Deficiency Type 20. With our discounted price of $500 USD and comprehensive genetic counseling support, you can make informed decisions about your health and future.
Ready to schedule your genetic test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic health with confidence and clarity.
