FARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 14 NGS Genetic DNA Test
Understanding FARS2 Gene Testing
The FARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 14 NGS Genetic DNA Test represents a breakthrough in mitochondrial disorder diagnostics. This advanced genetic test specifically targets mutations in the FARS2 gene, which plays a critical role in mitochondrial protein synthesis and cellular energy production. Combined Oxidative Phosphorylation Deficiency Type 14 is a rare but serious metabolic condition that affects the body’s ability to generate energy efficiently, leading to progressive neurological and systemic complications.
What Does This Test Measure?
This comprehensive genetic analysis utilizes Next-Generation Sequencing (NGS) technology to examine the entire FARS2 gene for pathogenic variants. The test specifically detects:
- Point mutations and small insertions/deletions in the FARS2 gene
- Variants affecting mitochondrial tRNA synthesis
- Genetic alterations impacting oxidative phosphorylation complex assembly
- Inheritance patterns of mitochondrial disorders
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with symptoms suggestive of mitochondrial dysfunction or Combined Oxidative Phosphorylation Deficiency Type 14:
- Infants and children with unexplained developmental delays
- Patients experiencing progressive neurological deterioration
- Individuals with lactic acidosis or metabolic abnormalities
- Patients with muscle weakness, exercise intolerance, or fatigue
- Those with family history of mitochondrial disorders
- Children with failure to thrive or growth retardation
- Patients with seizures, ataxia, or movement disorders
Clinical Indications and Symptoms
The FARS2 gene test is particularly important for patients displaying:
- Early-onset encephalopathy with progressive neurological decline
- Leigh syndrome-like presentations
- Metabolic crises triggered by illness or stress
- Abnormal brain imaging findings suggestive of mitochondrial disease
- Elevated lactate levels in blood or cerebrospinal fluid
Benefits of FARS2 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Provides definitive identification of FARS2-related disorders
- Treatment Guidance: Informs targeted therapeutic approaches and management strategies
- Family Planning: Enables informed reproductive decisions and genetic counseling
- Prognostic Information: Helps predict disease progression and potential complications
- Early Intervention: Facilitates timely implementation of supportive care measures
- Research Contribution: Advances understanding of mitochondrial disorders
Understanding Your Test Results
Your FARS2 genetic test results will be carefully interpreted by our team of genetic specialists:
- Positive Result: Indicates the presence of pathogenic FARS2 variants, confirming Combined Oxidative Phosphorylation Deficiency Type 14 diagnosis
- Negative Result: Suggests absence of known FARS2 mutations, though other genetic causes should be considered
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Determines if individuals carry one copy of a mutated gene without showing symptoms
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | FARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 14 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 |
| Specialty | General Physician, Genetics |
| Method | NGS Technology |
| Disease Type | Metabolic Disorders |
Pre-Test Requirements
Before scheduling your FARS2 genetic test, please ensure:
- Complete clinical history documentation of the patient
- Genetic counseling session to create a detailed family pedigree
- Discussion of potential implications and limitations of testing
- Informed consent process completion
Nationwide Testing Availability
We proudly offer 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, San Jose, Austin, Jacksonville, Fort Worth, Columbus, San Francisco, and many more cities nationwide.
Take Control of Your Genetic Health
Don’t let uncertainty about mitochondrial disorders affect your quality of life. Our FARS2 genetic testing provides the clarity needed for informed medical decisions and personalized treatment approaches. With our discounted price of $500 USD (regularly $700 USD), comprehensive genetic analysis is more accessible than ever.
Schedule Your Test Today
Ready to take the next step in understanding your genetic health? Contact our genetic specialists to schedule your FARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 14 NGS Genetic DNA Test. Call or WhatsApp us at +1(267) 388-9828 to book your appointment or discuss any questions about the testing process.
Our dedicated team is available to guide you through every step of the genetic testing journey, from initial consultation to result interpretation and follow-up care planning. Take advantage of our limited-time discount and invest in your health today.
