RASA1 Gene Capillary Malformation-Arteriovenous Malformation NGS Genetic DNA Test
Comprehensive Genetic Analysis for Vascular Anomalies
The RASA1 Gene Capillary Malformation-Arteriovenous Malformation NGS Genetic DNA Test represents a breakthrough in vascular genetics diagnostics. This advanced test specifically targets mutations in the RASA1 gene, which plays a critical role in regulating blood vessel development and maintenance. When this gene malfunctions, it can lead to various vascular malformations that may affect multiple body systems and require specialized medical management.
What Does This Test Measure?
This sophisticated genetic test employs Next-Generation Sequencing (NGS) technology to comprehensively analyze the RASA1 gene for pathogenic variants. The test specifically detects:
- Point mutations and small insertions/deletions in the RASA1 gene
- Genetic variations associated with capillary malformation-arteriovenous malformation syndrome
- Inherited and de novo mutations affecting vascular development
- Variants that disrupt normal RAS signaling pathways
Who Should Consider This Test?
This genetic test is particularly recommended for individuals presenting with:
- Multiple cutaneous capillary malformations (port-wine stains)
- Unexplained arteriovenous malformations in various organs
- Family history of vascular anomalies or CM-AVM syndrome
- Neurological symptoms potentially related to cerebral vascular malformations
- Children with congenital vascular lesions and developmental concerns
- Individuals with Parkes Weber syndrome features
Clinical Benefits and Applications
Undergoing the RASA1 genetic test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms CM-AVM syndrome and differentiates from other vascular disorders
- Family Planning: Enables informed reproductive decisions and prenatal testing options
- Personalized Management: Guides appropriate surveillance and intervention strategies
- Risk Assessment: Identifies at-risk family members for early detection and prevention
- Treatment Guidance: Informs decisions regarding embolization, surgery, or other interventions
Understanding Your Test Results
Your genetic test results will be thoroughly explained during your genetic counseling session. Possible outcomes include:
- Positive Result: Identification of a pathogenic RASA1 variant confirms CM-AVM syndrome diagnosis
- Negative Result: No disease-causing mutation detected, though clinical follow-up may still be recommended
- Variant of Uncertain Significance: A genetic change with unclear clinical implications requiring further evaluation
All results should be interpreted in the context of your clinical presentation and family history by qualified healthcare professionals.
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | RASA1 Gene Capillary Malformation-Arteriovenous Malformation 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 |
Nationwide Testing Availability
We provide comprehensive genetic testing services across the United States with convenient locations in 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 laboratories ensure consistent, high-quality results regardless of your location.
Take Control of Your Vascular Health
Understanding your genetic predisposition to vascular malformations can significantly impact your healthcare journey. Our expert team provides comprehensive genetic counseling and support throughout the testing process. Don’t wait to get the answers you need for better vascular health management.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your RASA1 genetic test consultation and take the first step toward personalized vascular care.
