NGS Sequencing Alexander Disease Test
Comprehensive Genetic Testing for Neurological Disorders
The NGS Sequencing Alexander Disease Test represents a breakthrough in molecular diagnostics for rare neurological conditions. Alexander Disease is a progressive leukodystrophy characterized by the destruction of white matter in the brain, leading to severe neurological impairment. This advanced genetic test utilizes next-generation sequencing technology to identify mutations in the GFAP (glial fibrillary acidic protein) gene, providing definitive diagnosis and enabling targeted medical management.
What Does the Test Measure and Detect?
This sophisticated molecular diagnostic test specifically targets and sequences the GFAP gene, which encodes the glial fibrillary acidic protein essential for astrocyte function in the central nervous system. The test detects:
- Point mutations in the GFAP gene coding regions
- Missense mutations affecting protein structure
- Frameshift mutations disrupting gene function
- Novel genetic variants associated with Alexander Disease
- Inheritance patterns for genetic counseling purposes
The comprehensive analysis covers all coding exons and flanking intronic regions of the GFAP gene, ensuring maximum detection sensitivity for both known and novel pathogenic variants.
Who Should Consider This Test?
This genetic test is particularly recommended for individuals presenting with the following clinical symptoms and characteristics:
- Progressive spasticity and muscle stiffness
- Recurrent seizures or epilepsy of unknown origin
- Developmental regression or delayed milestones in children
- Macrocephaly (enlarged head size) in infants
- Vomiting, feeding difficulties, and failure to thrive
- Cognitive decline and intellectual disability
- Abnormal brain MRI findings showing white matter changes
- Family history of leukodystrophies or neurological disorders
- Unexplained neurological symptoms in pediatric patients
Clinical Benefits of Alexander Disease Testing
Undergoing the NGS Sequencing Alexander Disease Test provides numerous clinical advantages for patients and healthcare providers:
- Definitive Diagnosis: Confirms or rules out Alexander Disease with high accuracy
- Early Intervention: Enables prompt initiation of appropriate treatments and therapies
- Genetic Counseling: Provides essential information for family planning and recurrence risk assessment
- Treatment Guidance: Helps neurologists develop targeted management strategies
- Prognostic Information: Offers insights into disease progression and expected outcomes
- Research Contribution: Contributes to the growing understanding of rare neurological disorders
Understanding Your Test Results
Our comprehensive test report provides detailed interpretation of your genetic findings:
- Positive Result: Indicates the presence of a pathogenic GFAP mutation consistent with Alexander Disease diagnosis
- Negative Result: Suggests that GFAP mutations were not detected, though other genetic causes should be considered
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
- Carrier Status: Determines if individuals carry mutations that could be passed to offspring
All results include detailed clinical correlation and recommendations for follow-up care with your neurologist or genetic counselor.
Test Pricing and Availability
| Test Description | Price (USD) |
|---|---|
| NGS Sequencing Alexander Disease Test – Discount Price | $586 |
| NGS Sequencing Alexander Disease Test – Regular Price | $650 |
Nationwide Testing Availability
We have diagnostic branches conveniently located across the United States, serving patients in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network ensures accessible genetic testing services with consistent quality standards nationwide.
Sample Requirements and Processing
Turnaround Time: Sample collection daily by 9:00 AM; Reports delivered within 40 working days
Sample Type: Submit 10 mL (5 mL minimum) whole blood from 2 Lavender Top (EDTA) tubes. Ship refrigerated. DO NOT FREEZE.
Required Documentation: Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory for test processing.
Take Control of Your Neurological Health
Don’t let unexplained neurological symptoms remain a mystery. The NGS Sequencing Alexander Disease Test provides the clarity needed for proper diagnosis and treatment planning. Our team of genetic specialists and neurologists are ready to support you through every step of the testing process.
Ready to schedule your test? Call or WhatsApp us today at +1(267) 388-9828 to book your appointment or discuss your testing needs with our genetic counseling team.
Take the first step toward understanding your neurological health with our advanced genetic testing services. Early diagnosis can make a significant difference in managing Alexander Disease and improving quality of life.
