TSC1 TSC2 Gene Analysis: Comprehensive Genetic Testing for Tuberous Sclerosis Complex
Understanding TSC1 TSC2 Gene Analysis
The TSC1 TSC2 Gene Analysis represents a cutting-edge genetic diagnostic tool designed to identify mutations in the TSC1 and TSC2 genes, which are responsible for Tuberous Sclerosis Complex (TSC). This comprehensive genetic analysis utilizes Next-Generation Sequencing (NGS) technology to provide accurate and reliable results for individuals suspected of having TSC or those with a family history of this complex genetic disorder.
Tuberous Sclerosis Complex is a rare genetic condition that causes non-cancerous tumors to grow in various organs throughout the body, including the brain, skin, kidneys, heart, and lungs. Early and accurate diagnosis through TSC1 TSC2 Gene Analysis is crucial for implementing appropriate medical management strategies and improving patient outcomes.
What Does the TSC1 TSC2 Gene Analysis Detect?
This advanced genetic test specifically targets and analyzes:
- TSC1 Gene Mutations: Located on chromosome 9, responsible for producing hamartin protein
- TSC2 Gene Mutations: Located on chromosome 16, responsible for producing tuberin protein
- Pathogenic Variants: Including point mutations, small insertions/deletions, and larger genomic rearrangements
- Inheritance Patterns: Identifies whether mutations are inherited or occur spontaneously (de novo)
The test employs sophisticated NGS technology that sequences the entire coding regions and flanking intronic sequences of both TSC1 and TSC2 genes, ensuring comprehensive coverage and high detection rates for various mutation types.
Who Should Consider TSC1 TSC2 Gene Analysis?
Clinical Indications and Symptoms
This genetic test is recommended for individuals presenting with:
- Characteristic skin findings such as facial angiofibromas, hypomelanotic macules, or shagreen patches
- Neurological symptoms including seizures, developmental delays, or autism spectrum disorder
- Cardiac rhabdomyomas detected during prenatal or postnatal echocardiography
- Renal manifestations such as angiomyolipomas or renal cysts
- Pulmonary lymphangioleiomyomatosis (LAM) in females
- Retinal hamartomas or other ocular manifestations
- Family history of Tuberous Sclerosis Complex
- Unexplained developmental regression or intellectual disability
At-Risk Populations
- Children with infantile spasms or early-onset epilepsy
- Individuals with multiple organ system involvement suggestive of TSC
- Family members of individuals with confirmed TSC diagnosis
- Prenatal cases with cardiac tumors detected on ultrasound
Benefits of TSC1 TSC2 Gene Analysis
Undergoing comprehensive genetic testing for Tuberous Sclerosis Complex offers numerous advantages:
Early Diagnosis and Intervention
Early identification of TSC1 or TSC2 mutations enables prompt implementation of surveillance protocols and targeted treatments, potentially preventing complications and improving long-term outcomes.
Personalized Treatment Planning
Genetic results guide healthcare providers in developing individualized management strategies, including appropriate monitoring schedules and targeted therapies such as mTOR inhibitors.
Family Planning and Genetic Counseling
Identification of specific mutations facilitates accurate genetic counseling for family members and informed reproductive decision-making.
Comprehensive Risk Assessment
The test provides valuable information about disease severity predictions and potential organ involvement, allowing for proactive medical management.
Understanding Your Test Results
Possible Result Interpretations
- Positive Result: A pathogenic mutation identified in either TSC1 or TSC2 gene confirms the diagnosis of Tuberous Sclerosis Complex
- Negative Result: No pathogenic mutations detected; however, clinical diagnosis may still be possible based on established diagnostic criteria
- Variant of Uncertain Significance (VUS): A genetic change identified whose clinical significance is currently unknown
- Carrier Status: Identification of mutation in asymptomatic individuals with implications for family members
Clinical Implications
Positive results typically lead to:
- Implementation of TSC-specific surveillance protocols
- Referral to appropriate specialists (neurology, dermatology, nephrology, etc.)
- Consideration of targeted therapies
- Genetic counseling for family members
- Educational and support resources
Test Details and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | TSC1 TSC2 Gene Analysis |
| Discount Price | $900 USD |
| Regular Price | $1200 USD |
| Turnaround Time | 4-6 weeks |
| Sample Type | Amniotic fluid / Chorionic villi / Peripheral blood |
| Test Components | Sterile container / Sterile Normal Saline Container / EDTA Vacutainer (3 ml) |
| Testing Method | Next-Generation Sequencing (NGS) |
| Specialty | General Physician, Genetics |
Pre-Test Instructions and Requirements
The TSC1 TSC2 Gene Analysis requires a Doctor’s prescription for testing. Please note that prescription requirements may not apply for surgical cases, pregnancy-related testing, or individuals planning international travel. Our genetic counselors are available to discuss testing indications and assist with the prescription process if needed.
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving patients in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network of certified laboratories ensures consistent quality and reliable results nationwide.
Take Action Today
Don’t wait to get the answers you need for proper diagnosis and management of Tuberous Sclerosis Complex. Our experienced genetic specialists are ready to assist you with comprehensive testing and personalized guidance.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your TSC1 TSC2 Gene Analysis or to speak with one of our genetic counselors about your testing options.
Early genetic testing can make a significant difference in managing Tuberous Sclerosis Complex effectively. Take the first step toward comprehensive genetic evaluation and personalized medical care by booking your test today.
