RNF213 Gene Moyamoya Disease Type 2 Susceptibility NGS Genetic DNA Test
Understanding Moyamoya Disease and Genetic Susceptibility
Moyamoya disease represents a rare but serious cerebrovascular disorder characterized by progressive narrowing and eventual blockage of the internal carotid arteries and their branches. The term “moyamoya” translates to “puff of smoke” in Japanese, describing the appearance of tiny collateral vessels that form to compensate for the blocked arteries. Type 2 Moyamoya disease specifically involves mutations in the RNF213 gene, which plays a crucial role in vascular development and maintenance.
What This Advanced Genetic Test Measures
Our comprehensive NGS (Next-Generation Sequencing) genetic DNA test specifically targets the RNF213 gene to identify mutations associated with Moyamoya disease type 2 susceptibility. The test examines:
- Complete sequencing of the RNF213 gene coding regions
- Detection of known pathogenic variants including the p.R4810K mutation
- Identification of novel variants that may impact protein function
- Assessment of genetic markers linked to vascular integrity
Who Should Consider This Genetic Screening?
This test is particularly recommended for individuals experiencing:
- Recurrent transient ischemic attacks (TIAs) or mini-strokes
- Unexplained neurological symptoms including headaches, seizures, or cognitive decline
- Family history of Moyamoya disease or related cerebrovascular conditions
- Previous diagnosis of unexplained cerebral ischemia
- Children with developmental delays or recurrent strokes
- Individuals of East Asian descent with neurological symptoms
Significant Benefits of Early Genetic Detection
Undergoing RNF213 genetic testing provides numerous advantages:
- Early Intervention Opportunities: Identify risk before significant neurological damage occurs
- Personalized Monitoring: Develop targeted surveillance protocols based on genetic risk
- Family Planning Guidance: Understand inheritance patterns for future generations
- Treatment Optimization: Inform surgical decisions and medical management strategies
- Psychological Relief: Reduce uncertainty through definitive genetic information
Understanding Your Test Results
Your genetic test results will fall into one of several categories:
- Positive for Pathogenic Variant: Indicates increased susceptibility to Moyamoya disease type 2, requiring specialized neurological care and monitoring
- Negative Result: No known pathogenic variants detected, though environmental factors and other genetic influences may still contribute to risk
- Variant of Uncertain Significance: Requires additional clinical correlation and possibly family studies
- Carrier Status: Important for family planning and understanding inheritance patterns
All results include comprehensive genetic counseling to ensure proper interpretation and next steps.
Test Pricing and Availability
| Test Feature | Details |
|---|---|
| Test Name | RNF213 Gene Moyamoya Disease Type 2 Susceptibility 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 |
Nationwide Testing Accessibility
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network of certified genetic counselors and medical professionals ensures consistent, high-quality care regardless of location.
Take Control of Your Neurological Health Today
Don’t wait for symptoms to progress. Early genetic detection of Moyamoya disease susceptibility can significantly impact treatment outcomes and quality of life. Our team of genetic specialists is ready to guide you through the testing process and provide comprehensive support for result interpretation and next steps.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your RNF213 genetic testing appointment and take the first step toward proactive neurological health management.
