AARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 8 NGS Genetic DNA Test
Comprehensive Genetic Testing for Mitochondrial Energy Disorders
The AARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 8 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for mitochondrial disorders. This advanced test specifically targets mutations in the AARS2 gene, which plays a critical role in mitochondrial protein synthesis and cellular energy production. Oxidative phosphorylation deficiency type 8 is a rare but serious condition that affects the body’s ability to generate energy efficiently, leading to multi-system complications that can impact neurological function, muscle strength, and overall metabolic health.
What This Test Measures and Detects
Our comprehensive NGS genetic analysis examines the complete coding region of the AARS2 gene to identify:
- Pathogenic variants and mutations in the AARS2 gene
- Single nucleotide polymorphisms (SNPs) affecting mitochondrial function
- Copy number variations impacting gene expression
- Autosomal recessive inheritance patterns
- Specific genetic markers associated with oxidative phosphorylation deficiency
The test utilizes state-of-the-art Next-Generation Sequencing technology, providing unparalleled accuracy in detecting even the most subtle genetic variations that could contribute to mitochondrial dysfunction.
Who Should Consider This Test
This genetic test is particularly recommended for individuals presenting with:
- Unexplained neurological symptoms including seizures or developmental delays
- Progressive muscle weakness or exercise intolerance
- Metabolic acidosis or lactic acidosis
- Family history of mitochondrial disorders
- Unexplained multi-organ system involvement
- Developmental regression in children
- Cardiac abnormalities with unknown etiology
- Vision or hearing loss of unknown cause
Clinical Benefits of Genetic Testing
Undergoing the AARS2 gene test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out oxidative phosphorylation deficiency type 8
- Personalized Treatment: Enables targeted therapeutic interventions
- Family Planning: Provides crucial information for genetic counseling
- Prognostic Information: Helps predict disease progression and outcomes
- Early Intervention: Facilitates timely management of symptoms
- Research Contribution: Advances understanding of rare mitochondrial disorders
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and medical geneticists. Results typically fall into three categories:
- Positive Result: Indicates the presence of pathogenic AARS2 gene mutations associated with oxidative phosphorylation deficiency type 8. This confirms the diagnosis and enables targeted management strategies.
- Negative Result: Suggests that no known pathogenic mutations were detected in the AARS2 gene. However, this does not completely rule out mitochondrial disorders, as other genetic or environmental factors may be involved.
- Variant of Uncertain Significance (VUS): Identifies genetic changes whose clinical significance is currently unknown. Additional family testing or research may be recommended.
All results include comprehensive explanations and recommendations for next steps, including consultation with metabolic specialists and genetic counselors.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood
Methodology: Next-Generation Sequencing (NGS) Technology
Nationwide Testing Availability
We have conveniently located testing centers 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 more. Our network of certified genetic testing facilities ensures accessible, reliable testing services for patients nationwide.
Take Control of Your Genetic Health Today
Don’t let uncertainty about mitochondrial disorders affect your quality of life. Our AARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 8 NGS Genetic DNA Test provides the clarity and confidence you need for informed medical decisions. With our discounted price of only $500 USD, advanced genetic testing is more accessible than ever.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take the first step toward understanding your genetic health.
Our team of genetic specialists is ready to guide you through the testing process, answer your questions, and provide the comprehensive support you deserve. Book your appointment now and gain valuable insights into your metabolic health and genetic inheritance patterns.
