Nx Gen Sequencing Tuberous Sclerosis Complex Test
Comprehensive Genetic Testing for Tuberous Sclerosis Complex
The Nx Gen Sequencing Tuberous Sclerosis Complex Test represents a breakthrough in genetic diagnostics for individuals suspected of having Tuberous Sclerosis Complex (TSC). This advanced testing methodology utilizes next-generation sequencing technology to provide comprehensive analysis of the TSC1 and TSC2 genes, which are crucial for accurate diagnosis and management of this complex genetic disorder.
What is Tuberous Sclerosis Complex?
Tuberous Sclerosis Complex is a rare genetic disorder that causes non-cancerous tumors to grow in various organs throughout the body, including the brain, kidneys, heart, eyes, lungs, and skin. This condition affects approximately 1 in 6,000 newborns and can manifest with varying severity, making accurate genetic diagnosis essential for proper management and treatment planning.
What the Test Measures and Detects
Our Nx Gen Sequencing Tuberous Sclerosis Complex Test provides comprehensive analysis of:
- TSC1 Gene Mutations: Comprehensive sequencing of the TSC1 gene located on chromosome 9
- TSC2 Gene Mutations: Detailed analysis of the TSC2 gene on chromosome 16
- Point Mutations: Detection of single nucleotide variations
- Small Insertions/Deletions: Identification of small genetic insertions and deletions
- Splice Site Variants: Analysis of genetic variations affecting RNA splicing
The test utilizes both Next-Generation Sequencing (NGS) and Sanger sequencing technologies to ensure maximum accuracy and reliability in detecting genetic variations associated with Tuberous Sclerosis Complex.
Who Should Consider This Test?
Clinical Indications and Symptoms
This genetic test is recommended for individuals presenting with:
- Neurological Symptoms: Unexplained seizures, especially infantile spasms
- Developmental Concerns: Developmental delays, intellectual disability, or autism spectrum disorders
- Skin Manifestations: Hypomelanotic macules, facial angiofibromas, or shagreen patches
- Cardiac Issues: Cardiac rhabdomyomas detected during prenatal or postnatal echocardiography
- Renal Abnormalities: Multiple renal angiomyolipomas or cysts
- Ophthalmological Findings: Retinal hamartomas or other ocular manifestations
- Family History: Individuals with family members diagnosed with TSC
Benefits of Taking the Test
Undergoing the Nx Gen Sequencing Tuberous Sclerosis Complex Test provides numerous advantages:
- Accurate Diagnosis: Provides definitive genetic confirmation of TSC
- Early Intervention: Enables timely implementation of appropriate treatments
- Personalized Management: Guides targeted therapeutic approaches based on genetic findings
- Family Planning: Offers valuable information for genetic counseling and family planning decisions
- Prognostic Information: Helps predict disease progression and potential complications
- Comprehensive Care: Facilitates coordinated care across multiple medical specialties
Understanding Your Test Results
Interpretation Guidelines
Your test results will fall into one of several categories:
- Positive Result: Identification of a pathogenic mutation in TSC1 or TSC2 genes confirms the diagnosis of Tuberous Sclerosis Complex
- Negative Result: No mutation detected, though clinical evaluation remains important for diagnosis
- Variant of Uncertain Significance (VUS): Genetic changes with unclear clinical implications requiring further evaluation
- Benign Variants: Common genetic variations not associated with disease
All results are accompanied by detailed interpretation from our team of certified genetic counselors and molecular geneticists to ensure proper understanding and next steps.
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | Nx Gen Sequencing Tuberous Sclerosis Complex Test |
| Discount Price | $688 USD |
| Regular Price | $764 USD |
| Turnaround Time | Sample Daily by 9 am; Report 30 days |
| Sample Type | Submit 10 mL (5 mL min.) whole blood from 2 Lavender Top (EDTA) tubes. Ship refrigerated. DO NOT FREEZE. |
| Test Components | TSC1, TSC2 |
| Methodology | NGS, Sanger sequencing |
| Specialty | Neurology |
| Department | Molecular Diagnostics |
Nationwide Accessibility
We have branches across the United States, making advanced genetic testing accessible to patients in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our nationwide network ensures that quality genetic testing is available regardless of your location.
Book Your Test Today
Take the first step toward accurate diagnosis and personalized care. Our team of genetic specialists is ready to assist you with comprehensive testing and expert interpretation. Contact us today to schedule your Nx Gen Sequencing Tuberous Sclerosis Complex Test.
Call or WhatsApp: +1(267) 388-9828
Don’t wait to get the answers you need for better health management. Our dedicated team is available to answer your questions and guide you through the testing process with compassion and expertise.
