NF2 Gene Neurofibromatosis Type 2 NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurofibromatosis Type 2
The NF2 Gene Neurofibromatosis Type 2 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the NF2 (neurofibromin 2) gene, which is responsible for Neurofibromatosis Type 2. This inherited autosomal dominant disorder primarily affects the nervous system and can lead to the development of multiple tumors, particularly schwannomas. Our advanced Next-Generation Sequencing technology provides unparalleled accuracy in detecting genetic variations, offering patients and healthcare providers critical information for proactive medical management and personalized treatment strategies.
What Does This Test Measure and Detect?
This comprehensive genetic analysis specifically targets the NF2 gene located on chromosome 22q12.2. The test identifies:
- Point mutations, insertions, and deletions in the NF2 gene
- Frameshift mutations that disrupt protein function
- Nonsense and missense mutations affecting merlin protein production
- Large deletions and rearrangements within the NF2 gene region
- Splice site mutations impacting gene expression
The NF2 gene encodes the merlin protein (moesin-ezrin-radixin-like protein), which functions as a tumor suppressor. Mutations in this gene lead to uncontrolled cell growth and the characteristic tumor development seen in Neurofibromatosis Type 2.
Who Should Consider This Genetic Test?
This test is recommended for individuals experiencing symptoms or having risk factors associated with Neurofibromatosis Type 2:
- Individuals with bilateral vestibular schwannomas (acoustic neuromas)
- Patients with family history of Neurofibromatosis Type 2
- Those experiencing progressive hearing loss, tinnitus, or balance problems
- Individuals with developing meningiomas, ependymomas, or peripheral nerve tumors
- Patients with juvenile posterior subcapsular lenticular opacities
- Children or adults with skin tumors or cutaneous schwannomas
- Individuals planning family who have concerns about genetic inheritance
Key Benefits of NF2 Genetic Testing
Undergoing NF2 genetic testing provides numerous advantages for patients and their families:
- Early Diagnosis: Enables early detection before significant symptoms develop
- Personalized Treatment Planning: Guides appropriate medical interventions and monitoring schedules
- Family Planning Guidance: Provides crucial information for reproductive decisions
- Risk Assessment for Family Members: Identifies at-risk relatives who may benefit from screening
- Proactive Monitoring: Facilitates regular surveillance for tumor development
- Psychological Relief: Reduces uncertainty and anxiety through definitive diagnosis
- Improved Quality of Life: Enables timely interventions to preserve hearing and neurological function
Understanding Your Test Results
Your NF2 genetic test results will fall into one of several categories, each with specific implications:
- Positive Result: Indicates the presence of a pathogenic NF2 mutation, confirming Neurofibromatosis Type 2 diagnosis. This result enables targeted surveillance and early intervention strategies.
- Negative Result: No NF2 mutation detected. In individuals with clinical symptoms, this may suggest alternative diagnoses or mosaic forms of the condition.
- Variant of Uncertain Significance (VUS): Identifies a genetic change whose clinical significance is currently unknown. Additional family studies may be recommended.
- Mosaic Detection: Identifies mutations present in only some cells, which may explain milder or atypical presentations.
All results are accompanied by comprehensive genetic counseling to ensure proper understanding and appropriate next steps.
Test Pricing and Details
| Test Component | Price (USD) |
|---|---|
| NF2 Gene Neurofibromatosis Type 2 NGS Genetic DNA Test – Discount Price | $500 |
| NF2 Gene Neurofibromatosis Type 2 NGS Genetic DNA Test – Regular Price | $700 |
Test Specifications
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Methodology: Next-Generation Sequencing (NGS) Technology
- Specialty: Dermatology, Genetics, Neurology
- Department: Genetics
Pre-Test Requirements
Before undergoing testing, patients should provide:
- Complete clinical history documentation
- Participation in genetic counseling session
- Development of detailed pedigree chart documenting family members affected by Neurofibromatosis Type 2
- Informed consent for genetic testing
Nationwide 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, San Jose, and many more. Our network of certified genetic counselors and healthcare professionals ensures consistent, high-quality care regardless of location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about Neurofibromatosis Type 2 affect your quality of life. Early genetic testing provides the clarity needed for informed medical decisions and proactive health management. Our team of genetic specialists is ready to guide you through the testing process and help interpret your results within the context of your personal health journey.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your NF2 genetic test consultation and take the first step toward understanding your genetic health.
Book your appointment now to benefit from our current discounted pricing and comprehensive genetic counseling services. Our dedicated team is committed to providing accurate, timely results and personalized support throughout your testing experience.
