NF1 Gene Neurofibromatosis Type 1 NGS Genetic DNA Test
Comprehensive Introduction to NF1 Genetic Testing
The NF1 Gene Neurofibromatosis Type 1 NGS Genetic DNA Test represents a revolutionary advancement in genetic diagnostics for individuals at risk of Neurofibromatosis Type 1. This sophisticated testing methodology employs Next-Generation Sequencing (NGS) technology to provide unparalleled accuracy in detecting mutations within the NF1 gene, which plays a critical role in tumor suppression and cellular regulation. Neurofibromatosis Type 1 affects approximately 1 in 3,000 individuals worldwide and manifests through various clinical features that can significantly impact quality of life.
Early and accurate diagnosis through genetic testing is paramount for implementing appropriate medical surveillance, managing symptoms effectively, and providing comprehensive genetic counseling. The importance of this test extends beyond individual diagnosis to encompass family planning decisions and proactive healthcare management strategies for affected individuals and their relatives.
What the Test Measures and Detects
This advanced genetic test specifically targets and analyzes the NF1 gene located on chromosome 17q11.2, which encodes the neurofibromin protein. The comprehensive analysis includes:
- Detection of point mutations, insertions, and deletions within the NF1 gene coding regions
- Identification of splice site mutations affecting gene expression
- Analysis of promoter regions and regulatory elements
- Assessment of copy number variations and large genomic rearrangements
- Comprehensive coverage of all 60 exons and flanking intronic regions
The NGS technology employed provides exceptional sensitivity and specificity, capable of detecting mutations with greater than 99% accuracy. This high-resolution analysis ensures that even subtle genetic alterations are identified, providing clinicians with comprehensive data for accurate diagnosis and personalized treatment planning.
Who Should Consider This Test
Genetic testing for Neurofibromatosis Type 1 is recommended for individuals presenting with specific clinical features or family history patterns:
Clinical Indications and Symptoms
- Multiple café-au-lait spots (six or more measuring >5mm in children or >15mm in adults)
- Cutaneous or subcutaneous neurofibromas
- Axillary or inguinal freckling
- Lisch nodules (iris hamartomas)
- Optic pathway gliomas
- Distinctive bone abnormalities including sphenoid wing dysplasia or tibial pseudarthrosis
- First-degree relative with confirmed NF1 diagnosis
- Unexplained learning disabilities or developmental delays with associated skin findings
Family History Considerations
- Individuals with a parent or sibling diagnosed with Neurofibromatosis Type 1
- Couples planning pregnancy when one partner has NF1
- Prenatal testing for at-risk pregnancies
- Individuals with suggestive symptoms but unclear clinical diagnosis
Significant Benefits of NF1 Genetic Testing
Undergoing NF1 genetic testing provides numerous advantages for patients and healthcare providers:
- Early and Accurate Diagnosis: Enables definitive diagnosis before full clinical manifestation, allowing for proactive management
- Personalized Medical Surveillance: Facilitates tailored screening protocols for NF1-related complications
- Family Planning Guidance: Provides crucial information for reproductive decision-making and prenatal testing options
- Treatment Optimization: Guides appropriate therapeutic interventions and medication selections
- Psychological Relief: Reduces diagnostic uncertainty and provides clarity for affected individuals and families
- Research Contribution: Advances understanding of NF1 genetics and contributes to ongoing therapeutic development
Understanding Your Test Results
Interpreting NF1 genetic test results requires professional genetic counseling expertise. Our comprehensive reporting includes:
Possible Result Interpretations
- Positive Result: Identification of a pathogenic NF1 mutation confirms Neurofibromatosis Type 1 diagnosis
- Negative Result: No mutation detected; however, clinical follow-up may still be recommended based on symptoms
- Variant of Uncertain Significance (VUS): Genetic change identified with unclear clinical implications requiring further evaluation
- No Mutation Detected in Symptomatic Individual: May suggest mosaicism or alternative diagnosis considerations
Post-Test Recommendations
- Comprehensive genetic counseling session to discuss results and implications
- Development of personalized healthcare management plan
- Family member testing recommendations when appropriate
- Referral to NF1 specialty clinics for multidisciplinary care
- Regular follow-up appointments for ongoing monitoring
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | NF1 Gene Neurofibromatosis Type 1 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 Methodology | Next-Generation Sequencing (NGS) Technology |
Nationwide Testing Availability
We proudly offer comprehensive NF1 genetic testing services across the United States with convenient locations in all major metropolitan areas. Our state-of-the-art facilities in New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and numerous other cities ensure accessible genetic testing for patients nationwide. Each location maintains the same high standards of quality, accuracy, and patient care that define our commitment to excellence in genetic diagnostics.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about Neurofibromatosis Type 1 affect your health decisions. Our expert team of genetic counselors and medical professionals is ready to guide you through the testing process with compassion and expertise. Schedule your NF1 genetic test today to gain valuable insights into your genetic health and take control of your medical future.
Call or WhatsApp us now at +1(267) 388-9828 to book your appointment or speak with our genetic counseling team. Early detection through genetic testing can make a significant difference in managing Neurofibromatosis Type 1 effectively.
