L1CAM Gene MASA Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The L1CAM Gene MASA Syndrome NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering precise detection of mutations associated with MASA syndrome. This rare X-linked disorder affects neurological development and requires specialized testing for accurate diagnosis and management.
What Does This Test Measure?
This advanced genetic test utilizes Next-Generation Sequencing (NGS) technology to analyze the L1CAM gene for specific mutations linked to MASA syndrome. The test detects:
- Point mutations in the L1CAM gene
- Small insertions and deletions
- Copy number variations
- Structural abnormalities affecting gene function
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with symptoms suggestive of MASA syndrome, including:
- Developmental delays in motor skills
- Intellectual disabilities of unknown origin
- Spastic paraplegia or muscle stiffness
- Speech and language difficulties (aphasia)
- Congenital hydrocephalus
- Family history of X-linked neurological disorders
- Unexplained neurological symptoms in male children
Benefits of L1CAM Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out MASA syndrome with high precision
- Family Planning Guidance: Provides crucial information for genetic counseling
- Personalized Treatment: Enables targeted therapeutic approaches
- Early Intervention: Facilitates timely support and management strategies
- Genetic Risk Assessment: Identifies carrier status in family members
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert geneticists and neurologists:
- Positive Result: Indicates the presence of L1CAM gene mutation associated with MASA syndrome
- Negative Result: Suggests no detectable mutation in the analyzed regions
- Variant of Uncertain Significance: Requires additional family studies for interpretation
- Carrier Status: Identifies individuals who carry the mutation but may not show symptoms
Test Details and Pricing
| Test Information | Details |
|---|---|
| Test Name | L1CAM Gene MASA 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 |
| Specialty | Neurology |
| Department | Genetics |
| Method | NGS Technology |
| Disease Type | Neurological Disorders |
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation
- Genetic counseling session scheduled
- Family pedigree chart prepared
- Understanding of test implications and limitations
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art facilities ensure consistent, high-quality testing standards nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about neurological symptoms affect your quality of life. Our expert team of genetic counselors and neurologists is ready to provide comprehensive support throughout your testing journey.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your L1CAM Gene MASA Syndrome NGS Genetic DNA Test and take control of your neurological health.
Early genetic testing can provide the answers you need for better health management and informed family planning decisions. Our dedicated team is committed to delivering accurate results and compassionate care throughout your diagnostic journey.
