CSF1R Gene Leukoencephalopathy Diffuse Hereditary with Spheroids NGS Genetic DNA Test
Understanding CSF1R Gene Leukoencephalopathy
CSF1R Gene Leukoencephalopathy, also known as hereditary diffuse leukoencephalopathy with spheroids (HDLS), is a rare, progressive neurological disorder that affects the brain’s white matter. This autosomal dominant condition results from mutations in the colony-stimulating factor 1 receptor (CSF1R) gene, which plays a critical role in microglial function and brain maintenance. The disorder typically manifests in adulthood and leads to progressive cognitive decline, motor dysfunction, and behavioral changes that significantly impact quality of life.
What This Advanced Genetic Test Detects
Our comprehensive NGS (Next-Generation Sequencing) Genetic DNA Test specifically targets mutations in the CSF1R gene that cause hereditary diffuse leukoencephalopathy with spheroids. The test examines:
- Point mutations in the CSF1R gene coding regions
- Small insertions and deletions affecting gene function
- Pathogenic variants associated with leukoencephalopathy development
- Genetic markers indicating autosomal dominant inheritance patterns
Clinical Indications and Symptoms
This test is particularly important for individuals experiencing:
- Progressive cognitive impairment and memory loss
- Personality changes and behavioral abnormalities
- Motor dysfunction including Parkinsonism features
- Speech difficulties and language impairment
- Seizures and movement disorders
- Family history of similar neurological symptoms
- Unexplained white matter changes on brain imaging
Key Benefits of CSF1R Genetic Testing
Undergoing this specialized genetic test provides numerous advantages for patients and their families:
- Accurate Diagnosis: Confirms or rules out CSF1R-related leukoencephalopathy
- Early Intervention: Enables timely management of symptoms
- Family Planning: Provides crucial information for genetic counseling
- Treatment Guidance: Helps neurologists develop targeted care plans
- Prognostic Information: Offers insight into disease progression expectations
- Research Contribution: Advances understanding of rare neurological disorders
Understanding Your Test Results
Our genetic counselors and neurologists will help you interpret your results with comprehensive guidance:
- Positive Result: Indicates presence of CSF1R gene mutation; confirms diagnosis and enables family screening
- Negative Result: Suggests CSF1R mutation is not the cause of symptoms; alternative diagnoses should be explored
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Important for family members considering genetic testing
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | CSF1R Gene Leukoencephalopathy Diffuse Hereditary with Spheroids 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 |
| Methodology | Next-Generation Sequencing (NGS) Technology |
| Specialty | Neurology and Genetics |
Pre-Test Requirements
Before testing, we recommend:
- Complete clinical history documentation
- Genetic counseling session with our specialists
- Development of detailed family pedigree chart
- Discussion of testing implications and potential outcomes
Nationwide Testing Availability
We have convenient testing locations across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art genetic testing facilities ensure consistent, reliable results regardless of your location.
Take Control of Your Neurological Health Today
Don’t let uncertainty about neurological symptoms affect your quality of life. Our CSF1R Gene Leukoencephalopathy NGS Genetic DNA Test provides the clarity you need for informed medical decisions and family planning. With our discounted price of $500 and comprehensive genetic counseling support, you can access world-class neurological genetic testing without financial burden.
Ready to schedule your test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your neurological health and securing your family’s future.
