PDGFRB Gene Basal Ganglia Calcification Type 4 NGS Genetic DNA Test
Comprehensive Introduction to Neurological Genetic Testing
The PDGFRB Gene Basal Ganglia Calcification Type 4 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, specifically designed to identify mutations in the PDGFRB gene that cause basal ganglia calcification. This condition, medically known as primary familial brain calcification, involves abnormal calcium deposits in specific brain regions that control movement, cognition, and behavior. Our advanced testing methodology provides patients and healthcare providers with definitive genetic information crucial for accurate diagnosis and personalized treatment planning.
What This Advanced Genetic Test Detects
This specialized genetic examination utilizes Next Generation Sequencing (NGS) technology to comprehensively analyze the PDGFRB gene for pathogenic variants. The test specifically identifies:
- Point mutations and small insertions/deletions in the PDGFRB gene
- Genetic variations associated with autosomal dominant inheritance patterns
- Mutations affecting platelet-derived growth factor receptor beta function
- Genetic markers linked to progressive neurological calcification
Clinical Significance of PDGFRB Gene Mutations
The PDGFRB gene encodes for a critical receptor tyrosine kinase involved in cell growth, proliferation, and differentiation. Mutations in this gene disrupt normal cellular signaling pathways, leading to abnormal calcium metabolism and deposition in the basal ganglia region of the brain. Early detection through genetic testing enables proactive management and intervention strategies.
Who Should Consider This Genetic Test
This specialized neurological genetic test is recommended for individuals presenting with:
- Progressive movement disorders including parkinsonism or dystonia
- Unexplained cognitive decline or dementia symptoms
- Psychiatric manifestations such as depression, anxiety, or psychosis
- Family history of basal ganglia calcification or similar neurological conditions
- Abnormal brain imaging showing calcification in basal ganglia regions
- Early-onset neurological symptoms without clear diagnosis
Pediatric Considerations
Children presenting with developmental delays, movement abnormalities, or neurological symptoms should be evaluated, as early-onset forms of basal ganglia calcification can manifest in pediatric populations. Genetic counseling is particularly important for families considering testing for children.
Significant Benefits of Genetic Testing
Undergoing the PDGFRB Gene Basal Ganglia Calcification Type 4 NGS Genetic DNA Test provides numerous advantages:
- Definitive Diagnosis: Obtain clear genetic confirmation of basal ganglia calcification type 4
- Family Planning: Enable informed reproductive decisions and genetic counseling
- Early Intervention: Facilitate timely treatment and management strategies
- Symptom Management: Guide appropriate therapeutic approaches based on genetic findings
- Prognostic Information: Understand potential disease progression and outcomes
- Research Contribution: Participate in advancing neurological genetic knowledge
Understanding Your Genetic Test Results
Our comprehensive genetic testing provides detailed analysis and interpretation:
Positive Result Interpretation
A positive result indicates the presence of a pathogenic mutation in the PDGFRB gene associated with basal ganglia calcification type 4. This confirmation enables:
- Targeted neurological management and treatment planning
- Family member testing and genetic counseling
- Regular monitoring for disease progression
- Participation in specialized clinical management programs
Negative Result Interpretation
A negative result suggests no detectable pathogenic mutations in the PDGFRB gene. However, clinical correlation remains essential, as other genetic or non-genetic factors may contribute to symptoms. Further evaluation may be recommended based on clinical presentation.
Variant of Uncertain Significance
Some genetic changes may be classified as variants of uncertain significance. In such cases, ongoing research and family studies may help clarify clinical relevance over time.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Test Specifications
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Technology: Next Generation Sequencing (NGS)
- Specialty: Pediatrics and Genetics
- Department: Genetics
- Disease Focus: Dysmorphology and Neurological Disorders
Pre-Test Requirements and Preparation
To ensure optimal testing outcomes, please provide:
- Complete clinical history of the patient
- Genetic counseling session documentation
- Detailed pedigree chart of affected family members
- Relevant neurological imaging and examination reports
Nationwide Testing Accessibility
We proudly offer comprehensive genetic testing services across the United States, with convenient locations in 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 specialized testing facilities ensures accessible, high-quality genetic services for patients nationwide.
Take Control of Your Neurological Health
Don’t let uncertainty about neurological symptoms affect your quality of life. The PDGFRB Gene Basal Ganglia Calcification Type 4 NGS Genetic DNA Test provides the clarity needed for informed healthcare decisions and personalized treatment approaches. Our team of genetic specialists is ready to guide you through the testing process and help interpret your results within the context of your unique clinical situation.
Ready to begin your genetic testing journey? Contact our genetic counseling team today at +1(267) 388-9828 or schedule your appointment online. Take the first step toward definitive diagnosis and personalized neurological care.
