TSC1 Gene Tuberous Sclerosis NGS Genetic DNA Test
Comprehensive Genetic Testing for Tuberous Sclerosis Complex
The TSC1 Gene Tuberous Sclerosis NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, utilizing cutting-edge next-generation sequencing technology to identify mutations in the TSC1 gene responsible for tuberous sclerosis complex (TSC). This comprehensive genetic analysis provides definitive answers for individuals and families affected by this complex neurological disorder characterized by the growth of benign tumors in multiple organ systems.
What Does the TSC1 Gene Test Measure?
This advanced genetic test specifically targets the TSC1 gene located on chromosome 9q34, which encodes the protein hamartin. The test detects:
- Pathogenic mutations in the TSC1 gene coding regions
- Small deletions and insertions affecting gene function
- Missense, nonsense, and frameshift mutations
- Splice site variants that disrupt protein production
- Large genomic rearrangements affecting TSC1
Who Should Consider TSC1 Genetic Testing?
This test is particularly recommended for individuals presenting with:
- Characteristic skin findings including hypomelanotic macules, facial angiofibromas, or shagreen patches
- Neurological symptoms such as seizures, especially infantile spasms
- Developmental delays or intellectual disability
- Cardiac rhabdomyomas detected during fetal ultrasound
- Renal angiomyolipomas or other organ involvement
- Family history of tuberous sclerosis complex
- Unexplained multi-organ benign tumor growth
Clinical Benefits of TSC1 Genetic Testing
Undergoing TSC1 genetic testing provides numerous clinical advantages:
- Definitive Diagnosis: Confirms or rules out tuberous sclerosis complex with high accuracy
- Early Intervention: Enables proactive management of potential complications
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Personalized Treatment: Guides targeted therapeutic approaches based on genetic findings
- Prognostic Information: Helps predict disease progression and potential complications
- Clinical Monitoring: Establishes baseline for ongoing surveillance of affected organs
Understanding Your Test Results
Your TSC1 genetic test results will fall into one of several categories:
- Positive Result: A pathogenic mutation is identified, confirming tuberous sclerosis complex diagnosis
- Negative Result: No mutation detected, though clinical follow-up may still be necessary
- Variant of Uncertain Significance: A genetic change is found whose clinical significance is unknown
- No Mutation Detected: No TSC1 mutations identified, though TSC2 testing may be recommended
All results are accompanied by comprehensive interpretation from our board-certified genetic specialists, ensuring you understand the implications for your health and family.
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | TSC1 Gene Tuberous Sclerosis 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 |
| Testing Method | Next-Generation Sequencing (NGS) |
Nationwide Testing Availability
We proudly offer TSC1 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 genetic testing facilities ensure consistent, high-quality results regardless of your location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about tuberous sclerosis complex affect your quality of life. Our comprehensive TSC1 genetic testing provides the answers you need for informed healthcare decisions. With our discounted price of $500 USD and nationwide availability, accessing advanced genetic diagnostics has never been more convenient.
Ready to schedule your TSC1 Gene Tuberous Sclerosis NGS Genetic DNA Test? Contact our genetic specialists today at +1(267) 388-9828 to discuss your testing needs, schedule an appointment, or learn more about our comprehensive genetic counseling services. Take the first step toward definitive diagnosis and personalized care management.
