NF1 Gene Neurofibromatosis Type 1 NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurofibromatosis Type 1
The NF1 Gene Neurofibromatosis Type 1 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for individuals at risk of neurofibromatosis type 1. This advanced testing methodology utilizes next-generation sequencing technology to provide comprehensive analysis of the NF1 gene, offering unprecedented accuracy in detecting mutations associated with this complex genetic disorder.
What Does the NF1 Gene Test Measure?
This sophisticated genetic test specifically targets and analyzes the NF1 gene located on chromosome 17. The test detects:
- Point mutations and small deletions/insertions in the NF1 gene
- Large genomic rearrangements affecting neurofibromin production
- Pathogenic variants that disrupt normal tumor suppressor function
- Inherited and de novo mutations responsible for NF1 development
Who Should Consider NF1 Genetic Testing?
This test is recommended for individuals presenting with:
- Multiple café-au-lait spots (6 or more measuring >5mm in children)
- Family history of neurofibromatosis type 1
- Cutaneous or plexiform neurofibromas
- Lisch nodules (iris hamartomas)
- Axillary or inguinal freckling
- Optic pathway gliomas
- Bone abnormalities including sphenoid wing dysplasia
- Learning disabilities or developmental delays
Clinical Benefits of NF1 Genetic Testing
Early detection through NF1 genetic testing provides numerous advantages:
- Proactive Management: Enables early intervention and monitoring for complications
- Family Planning: Provides crucial information for reproductive decisions
- Personalized Care: Facilitates tailored medical management strategies
- Risk Assessment: Identifies at-risk family members for preventive screening
- Psychological Relief: Reduces uncertainty through definitive diagnosis
Understanding Your Test Results
Your NF1 genetic test results will fall into one of these categories:
- Positive Result: A pathogenic mutation in the NF1 gene is identified, confirming neurofibromatosis type 1 diagnosis
- Negative Result: No mutation detected, though clinical evaluation remains important
- Variant of Uncertain Significance: A genetic change is found, but its clinical significance requires further investigation
All results are accompanied by comprehensive genetic counseling to ensure proper understanding and appropriate next steps.
Test Pricing Information
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
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 more. Our network ensures accessible genetic testing services nationwide.
Take Control of Your Genetic Health Today
Don’t wait to get the answers you need about neurofibromatosis type 1. Our comprehensive NF1 genetic testing provides the clarity required for informed healthcare decisions. With results available in 3-4 weeks and multiple sample collection options including blood, extracted DNA, or FTA card blood spots, getting tested has never been more convenient.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your NF1 Gene Neurofibromatosis Type 1 NGS Genetic DNA Test. Take the first step toward understanding your genetic health with confidence and precision.
