TSC2 Gene Tuberous Sclerosis Type 2 NGS Genetic DNA Test
Comprehensive Genetic Testing for Tuberous Sclerosis Complex
Tuberous sclerosis complex (TSC) is a rare genetic disorder that affects multiple organ systems, primarily the brain, skin, kidneys, heart, and lungs. The TSC2 Gene Tuberous Sclerosis Type 2 NGS Genetic DNA Test represents a significant advancement in genetic diagnostics, providing precise identification of mutations in the TSC2 gene that cause this complex neurological condition.
What is Tuberous Sclerosis Complex?
Tuberous sclerosis complex is an autosomal dominant disorder characterized by the growth of benign tumors in various organs. The condition affects approximately 1 in 6,000 newborns and can manifest with varying severity. The TSC2 gene, located on chromosome 16, encodes the protein tuberin, which plays a crucial role in regulating cell growth and division through the mTOR signaling pathway.
What the Test Measures and Detects
Our advanced NGS (Next-Generation Sequencing) technology enables comprehensive analysis of the TSC2 gene to identify:
- Point mutations, insertions, and deletions in the TSC2 gene
- Pathogenic variants associated with tuberous sclerosis complex
- Novel mutations that may not be detected by conventional methods
- Genetic markers for disease severity prediction
Advanced NGS Technology
Next-generation sequencing provides unparalleled accuracy in detecting genetic variations. This technology sequences millions of DNA fragments simultaneously, offering comprehensive coverage of the TSC2 gene with exceptional sensitivity and specificity.
Who Should Consider This Test
Genetic testing for TSC2 mutations is recommended for individuals presenting with:
- Neurological Symptoms: Seizures, infantile spasms, or developmental delays
- Cutaneous Manifestations: Hypomelanotic macules, facial angiofibromas, or shagreen patches
- Organ Involvement: Cardiac rhabdomyomas, renal angiomyolipomas, or retinal hamartomas
- Family History: Known TSC in first-degree relatives
- Prenatal Concerns: Cardiac tumors detected during fetal ultrasound
Clinical Indications
This test is particularly valuable for patients with unexplained seizures, autism spectrum disorder, or multiple organ tumors. Early genetic diagnosis can guide appropriate surveillance and intervention strategies.
Benefits of Taking the TSC2 Genetic Test
- Early Diagnosis: Enables prompt intervention and management of symptoms
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Personalized Treatment: Guides targeted therapies including mTOR inhibitors
- Proactive Monitoring: Facilitates regular screening for TSC-related complications
- Peace of Mind: Reduces diagnostic uncertainty and provides clarity
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your results:
Positive Result
A positive result indicates the presence of a pathogenic TSC2 mutation. This confirms the diagnosis of tuberous sclerosis complex and enables:
- Implementation of appropriate surveillance protocols
- Early intervention for neurological symptoms
- Family member testing and genetic counseling
- Access to specialized TSC care centers
Negative Result
A negative result reduces the likelihood of TSC2-related tuberous sclerosis but doesn’t completely rule out the condition, as TSC1 mutations or mosaic forms may be present.
Variant of Uncertain Significance
Some genetic changes may require additional family studies or functional analysis to determine their clinical significance.
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | TSC2 Gene Tuberous Sclerosis Type 2 NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Methodology | Next-Generation Sequencing (NGS) |
Pre-Test Requirements
Before scheduling your test, we recommend:
- Complete clinical history documentation
- Genetic counseling session with our specialists
- Development of a detailed family pedigree chart
- Discussion of potential implications and outcomes
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, and San Jose. Our network ensures accessible genetic testing services for patients throughout the country.
Take Control of Your Genetic Health
Early genetic diagnosis of tuberous sclerosis complex can significantly impact treatment outcomes and quality of life. Our comprehensive TSC2 genetic testing provides the clarity needed for informed medical decisions and proactive health management.
Ready to Schedule Your Test?
Contact our genetic specialists today to discuss your testing needs and schedule an appointment. Call or WhatsApp us at +1(267) 388-9828 to book your TSC2 Gene Tuberous Sclerosis Type 2 NGS Genetic DNA Test and take the first step toward genetic clarity and personalized care.
Disclaimer: This test should be performed under the guidance of a qualified healthcare provider. Genetic counseling is recommended both before and after testing to ensure proper understanding of results and implications.
