TYROBP Gene Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Neurological Disorders
The TYROBP Gene Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (PLOSL) NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This sophisticated test utilizes next-generation sequencing technology to identify mutations in the TYROBP gene, which plays a critical role in the development and maintenance of both skeletal and nervous systems. Early and accurate diagnosis through this test can significantly impact treatment outcomes and quality of life for affected individuals.
What Does This Test Detect?
This advanced genetic test specifically targets mutations in the TYROBP (TYRO protein tyrosine kinase-binding protein) gene, which is essential for proper immune system function and bone metabolism. The test identifies:
- Pathogenic variants in the TYROBP gene associated with PLOSL
- Specific mutation types including missense, nonsense, and frameshift variants
- Copy number variations affecting gene function
- Inheritance patterns for family planning purposes
Who Should Consider This Test?
This specialized genetic test is recommended for individuals presenting with the following symptoms or clinical indications:
- Progressive dementia beginning in early adulthood
- Recurrent bone fractures with minimal trauma
- Presenile dementia with associated bone abnormalities
- Family history of PLOSL or similar neurological conditions
- Unexplained neurological deterioration in young adults
- Radiographic evidence of polycystic bone lesions
- White matter changes on brain imaging studies
Clinical Benefits of Genetic Testing
Undergoing the TYROBP gene test provides numerous clinical advantages:
- Definitive Diagnosis: Confirms or rules out PLOSL with high accuracy
- Early Intervention: Enables proactive management of symptoms
- Family Planning: Provides crucial information for genetic counseling
- Personalized Treatment: Guides targeted therapeutic approaches
- Prognostic Information: Helps predict disease progression and outcomes
- Research Contribution: Advances understanding of rare neurological disorders
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your results effectively:
- Positive Result: Indicates the presence of TYROBP gene mutation associated with PLOSL
- Negative Result: Suggests absence of tested mutations but doesn’t rule out other genetic causes
- Variant of Uncertain Significance: Requires further clinical correlation and family studies
- Carrier Status: Identifies individuals who may pass the condition to offspring
Test Pricing Information
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations 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 of certified genetic testing facilities ensures accessibility and convenience for patients nationwide.
Take Control of Your Neurological Health
Don’t let uncertainty about your neurological symptoms delay your path to accurate diagnosis and effective treatment. Our specialized TYROBP gene testing provides the clarity needed for informed medical decisions and personalized care planning.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take the first step toward understanding your neurological health.
