TK2 Gene Mitochondrial DNA Depletion Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Mitochondrial Disorders
The TK2 Gene Mitochondrial DNA Depletion Syndrome NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for mitochondrial disorders. This advanced test specifically targets the TK2 gene, which plays a critical role in mitochondrial DNA maintenance and replication. Mitochondrial DNA depletion syndromes are rare but devastating conditions that affect multiple organ systems, particularly the nervous system and muscles.
What This Test Measures and Detects
This sophisticated genetic analysis utilizes Next-Generation Sequencing (NGS) technology to identify mutations in the TK2 gene that cause mitochondrial DNA depletion syndrome. The test examines:
- Complete sequencing of the TK2 gene for point mutations
- Detection of deletions and insertions affecting gene function
- Assessment of mitochondrial DNA copy number variations
- Identification of pathogenic variants associated with neurological deterioration
Who Should Consider This Test
This genetic test is recommended for individuals presenting with symptoms suggestive of mitochondrial disorders, including:
- Progressive muscle weakness and fatigue
- Developmental delays in infants and children
- Neurological symptoms such as seizures or ataxia
- Family history of mitochondrial disorders
- Unexplained liver dysfunction or failure
- Respiratory complications without clear cause
- Infants with feeding difficulties and failure to thrive
Clinical Benefits of Genetic Testing
Undergoing the TK2 Gene Mitochondrial DNA Depletion Syndrome test provides numerous advantages:
- Accurate Diagnosis: Provides definitive genetic confirmation of mitochondrial disorders
- Treatment Guidance: Helps neurologists develop targeted treatment strategies
- Family Planning: Enables informed reproductive decisions for at-risk families
- Prognostic Information: Offers insights into disease progression and management
- Early Intervention: Facilitates timely therapeutic interventions
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your results effectively:
- Positive Result: Indicates presence of pathogenic TK2 gene mutations requiring specialized neurological care
- Negative Result: Suggests absence of tested mutations, though other genetic causes may need investigation
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals who may pass mutations to offspring
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | TK2 Gene Mitochondrial DNA Depletion Syndrome 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 | Neurologist |
| Department | Genetics |
| Method | NGS Technology |
| Disease Type | Neurological Disorders |
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation
- Genetic counseling session to create family pedigree chart
- Discussion of testing implications with healthcare provider
- Informed consent for genetic testing
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, and San Jose. Our network of certified genetic counselors and neurologists ensures comprehensive care regardless of your location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about mitochondrial disorders affect your quality of life. Our TK2 Gene Mitochondrial DNA Depletion Syndrome NGS Genetic DNA Test provides the clarity and answers you need for proper diagnosis and management. With our discounted price of $500 USD and comprehensive genetic counseling services, you can make informed decisions about your neurological health.
Call us now at +1(267) 388-9828 to schedule your genetic testing appointment or book online through our secure patient portal. Our genetic specialists are available to answer your questions and guide you through the testing process.
