FLCN Gene Birt-Hogg-Dube Syndrome NGS Genetic DNA Test
Comprehensive Introduction to FLCN Genetic Testing
The FLCN Gene Birt-Hogg-Dube Syndrome NGS Genetic DNA Test represents a cutting-edge approach to hereditary cancer risk assessment. Birt-Hogg-Dube syndrome is a rare autosomal dominant genetic disorder characterized by an increased predisposition to developing multiple tumor types, particularly renal cell carcinoma, pulmonary cysts, and fibrofolliculomas. This comprehensive genetic screening utilizes next-generation sequencing technology to analyze the FLCN gene with exceptional accuracy and reliability.
Early detection through genetic testing is crucial for individuals at risk of Birt-Hogg-Dube syndrome, as it enables proactive medical management and surveillance strategies. Understanding your genetic predisposition allows for personalized healthcare planning and informed decision-making regarding family health matters. The test provides valuable insights that can guide preventive measures and early intervention strategies.
What the Test Measures and Detects
This advanced genetic screening specifically targets the FLCN (folliculin) gene located on chromosome 17p11.2. The test identifies:
- Pathogenic variants and mutations in the FLCN gene
- Single nucleotide polymorphisms associated with Birt-Hogg-Dube syndrome
- Insertions, deletions, and copy number variations
- Genetic markers indicating increased cancer susceptibility
- Inheritance patterns for family risk assessment
Using state-of-the-art NGS technology, the test provides comprehensive coverage of the entire FLCN gene coding region, ensuring high detection rates for clinically significant variants. The analytical sensitivity exceeds 99% for point mutations and small insertions/deletions, making it one of the most reliable genetic tests available for this condition.
Who Should Consider This Genetic Test
Clinical Indications and Symptoms
This test is recommended for individuals presenting with:
- Personal history of multiple fibrofolliculomas or trichodiscomas
- Diagnosis of renal tumors, particularly chromophobe renal cell carcinoma
- Multiple lung cysts or spontaneous pneumothorax
- Family history of Birt-Hogg-Dube syndrome
- Unexplained kidney cancer at a young age
- Multiple benign skin tumors with characteristic facial distribution
- Pulmonary manifestations without clear etiology
High-Risk Populations
Individuals with the following risk factors should strongly consider testing:
- First-degree relatives of confirmed Birt-Hogg-Dube syndrome patients
- Patients with multiple renal tumors of different histological types
- Individuals with both skin lesions and pulmonary abnormalities
- Those with family history of early-onset renal cancer
Significant Benefits of Genetic Testing
Undergoing FLCN genetic testing provides numerous advantages for patients and their families:
- Early Risk Identification: Detect genetic predisposition before symptom onset
- Personalized Surveillance: Implement targeted cancer screening protocols
- Family Planning Guidance: Make informed reproductive decisions
- Proactive Management: Develop preventive healthcare strategies
- Psychological Relief: Reduce uncertainty through definitive diagnosis
- Treatment Optimization: Guide therapeutic approaches based on genetic profile
Understanding Your Test Results
Interpretation Guidelines
Test results are categorized as follows:
- Positive Result: Indicates presence of a pathogenic FLCN variant confirming Birt-Hogg-Dube syndrome diagnosis
- Negative Result: No pathogenic variants detected, though clinical follow-up may still be recommended
- Variant of Uncertain Significance: Genetic change identified with unknown clinical impact requiring further evaluation
Clinical Implications
A positive result necessitates:
- Regular dermatological examinations for skin manifestations
- Annual abdominal imaging for renal surveillance
- Pulmonary function monitoring and chest CT as indicated
- Genetic counseling for family members
- Consideration of preventive measures
Test Information and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | FLCN Gene Birt-Hogg-Dube Syndrome 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 |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
| Specialty | Pediatrics, Genetics |
| Disease Category | Dysmorphology, Hereditary Cancer Syndromes |
Pre-Test Requirements and Preparation
Before undergoing testing, patients should complete:
- Comprehensive clinical history documentation
- Genetic counseling session with certified genetic counselor
- Detailed pedigree chart creation documenting family health history
- Informed consent process explaining test implications
- Discussion of potential psychological impacts
Nationwide Accessibility
We maintain comprehensive testing facilities across the United States, with branches in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, and Philadelphia. Our network ensures convenient access to advanced genetic testing services regardless of your location.
Take Control of Your Genetic Health Today
Don’t leave your hereditary cancer risk to chance. The FLCN Gene Birt-Hogg-Dube Syndrome NGS Genetic DNA Test provides the clarity and confidence needed to make informed healthcare decisions. 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 and family health history.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Take the first step toward understanding your genetic predisposition and implementing proactive health management strategies.
