TGFBR1 Gene Loeys-Dietz Syndrome Type 2A NGS Genetic DNA Test
Comprehensive Genetic Analysis for Connective Tissue Disorders
The TGFBR1 Gene Loeys-Dietz Syndrome Type 2A NGS Genetic DNA Test represents a breakthrough in precision medicine for diagnosing inherited connective tissue disorders. This advanced genetic screening utilizes next-generation sequencing technology to detect mutations in the TGFBR1 gene, which plays a critical role in transforming growth factor-beta signaling pathways essential for proper tissue development and maintenance.
What This Test Measures and Detects
This sophisticated genetic analysis specifically targets the TGFBR1 (Transforming Growth Factor Beta Receptor 1) gene to identify pathogenic variants associated with Loeys-Dietz syndrome type 2A. The test examines:
- Point mutations and small insertions/deletions in the TGFBR1 gene
- Genetic variations affecting TGF-beta signaling pathways
- Inherited mutations responsible for connective tissue abnormalities
- Specific gene alterations linked to cardiovascular and skeletal manifestations
Who Should Consider This Genetic Test
This test is particularly recommended for individuals presenting with:
- Family history of Loeys-Dietz syndrome or related connective tissue disorders
- Unexplained aortic root dilation or arterial aneurysms
- Characteristic craniofacial features including hypertelorism, bifid uvula, or cleft palate
- Skeletal abnormalities such as joint laxity, pectus deformities, or scoliosis
- Dermatological manifestations including translucent skin or easy bruising
- History of arterial tortuosity or dissection without clear etiology
- Multiple congenital anomalies involving skeletal and cardiovascular systems
Clinical Benefits of Genetic Testing
Undergoing the TGFBR1 genetic test provides numerous advantages for patients and healthcare providers:
- Early Diagnosis and Intervention: Enables proactive management of cardiovascular risks before life-threatening complications develop
- Personalized Treatment Planning: Guides surgical timing and medical management strategies based on genetic risk profile
- Family Screening: Identifies at-risk relatives who may benefit from preventive monitoring
- Reproductive Planning: Provides information for family planning decisions and prenatal testing options
- Comprehensive Risk Assessment: Offers insights into potential multisystem involvement beyond initial clinical presentation
Understanding Your Test Results
Your genetic test results will fall into one of several categories with specific clinical implications:
- Positive Result: Identification of a known pathogenic variant confirms Loeys-Dietz syndrome type 2A diagnosis, requiring comprehensive cardiovascular monitoring and multidisciplinary care
- Negative Result: No mutation detected in TGFBR1 gene, though clinical follow-up may still be warranted based on symptoms
- Variant of Uncertain Significance (VUS): Identifies a genetic change with unclear clinical significance, requiring ongoing research and family studies
- Complex Findings: May require additional genetic counseling and possible expanded testing for complete assessment
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | TGFBR1 Gene Loeys-Dietz Syndrome Type 2A 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 |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Nationwide Testing Availability
We proudly offer comprehensive 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, San Jose, and many other cities. Our network of certified genetic counselors and medical professionals ensures accessible, high-quality care regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about your genetic health prevent you from taking control of your medical future. Our team of genetic specialists is ready to guide you through the testing process, from pre-test counseling to comprehensive result interpretation. Schedule your genetic consultation today to discuss whether the TGFBR1 Gene Loeys-Dietz Syndrome Type 2A NGS Genetic DNA Test is right for you or your family members.
Call or WhatsApp us today at +1(267) 388-9828 to book your appointment or request more information about this essential genetic screening.
Remember: Early genetic diagnosis can significantly impact treatment outcomes and quality of life for individuals with connective tissue disorders. Take the first step toward comprehensive genetic understanding and personalized medical management.
