HEPACAM Gene Megalencephalic Leukoencephalopathy with Subcortical Cysts 2A NGS Genetic DNA Test
Understanding HEPACAM Gene MLC2A Testing
The HEPACAM Gene Megalencephalic Leukoencephalopathy with Subcortical Cysts 2A (MLC2A) NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This advanced testing methodology provides crucial insights into a rare but significant neurological condition affecting brain white matter development and function.
What is Megalencephalic Leukoencephalopathy with Subcortical Cysts?
Megalencephalic Leukoencephalopathy with Subcortical Cysts (MLC) is a rare genetic neurological disorder characterized by macrocephaly (enlarged head size), progressive white matter abnormalities, and the formation of subcortical cysts in the brain. The HEPACAM gene mutation specifically causes MLC type 2A, which follows an autosomal recessive inheritance pattern.
What This Test Measures and Detects
Our comprehensive NGS Genetic DNA Test specifically targets:
- Mutations in the HEPACAM gene located on chromosome 11
- Pathogenic variants associated with MLC2A development
- Both known and novel genetic alterations affecting brain white matter integrity
- Inheritance patterns for family genetic counseling purposes
Advanced Next-Generation Sequencing Technology
Utilizing state-of-the-art NGS technology, this test provides unparalleled accuracy in detecting even the most subtle genetic variations. The comprehensive analysis covers the entire coding region of the HEPACAM gene, ensuring no significant mutation goes undetected.
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals presenting with:
Clinical Symptoms and Indicators
- Progressive macrocephaly developing in early childhood
- Delayed motor development and coordination difficulties
- Gradual neurological deterioration with spasticity and ataxia
- Seizures or epilepsy episodes
- Cognitive impairment or learning disabilities
- Family history of similar neurological conditions
- Abnormal MRI findings showing white matter changes and subcortical cysts
At-Risk Populations
- Children with unexplained enlarged head circumference
- Individuals with family history of MLC or similar disorders
- Patients with abnormal brain imaging results
- Couples planning pregnancy with known family history
Significant Benefits of HEPACAM Gene Testing
Early Diagnosis and Intervention
Early detection through genetic testing enables timely intervention strategies, potentially slowing disease progression and improving quality of life outcomes.
Comprehensive Family Planning
Understanding genetic risks empowers families to make informed reproductive decisions and pursue appropriate genetic counseling services.
Personalized Treatment Approaches
Accurate diagnosis facilitates targeted therapeutic interventions and management strategies tailored to individual patient needs.
Elimination of Diagnostic Uncertainty
Genetic confirmation provides definitive answers, reducing the diagnostic odyssey that many families with rare neurological conditions experience.
Understanding Your Test Results
Positive Result Interpretation
A positive result indicates the presence of pathogenic mutations in the HEPACAM gene associated with MLC2A. Our genetic counseling team will provide comprehensive guidance on:
- Disease progression expectations
- Management and treatment options
- Family member testing recommendations
- Long-term care planning strategies
Negative Result Implications
A negative result suggests that HEPACAM gene mutations were not detected, though continued clinical monitoring may be recommended based on individual circumstances.
Variant of Uncertain Significance (VUS)
In cases where genetic variations of unknown clinical significance are identified, our specialists provide ongoing monitoring and reclassification as new research emerges.
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
- Methodology: Next-Generation Sequencing (NGS) Technology
- Specialty: Neurology and Genetics
Pre-Test Requirements
To ensure optimal testing outcomes, we require:
- Complete clinical history of the patient
- Genetic counseling session to develop family pedigree chart
- Documentation of affected family members with similar conditions
- Relevant medical imaging and previous test results
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, and San Jose. Our network of certified genetic counselors and neurological specialists ensures comprehensive care regardless of your location.
Take Control of Your Neurological Health Today
Don’t let uncertainty about neurological symptoms affect your quality of life. Our HEPACAM Gene MLC2A NGS Genetic DNA Test provides the clarity and answers you need for informed healthcare decisions.
Ready to Schedule Your Test?
Contact our genetic specialists today to discuss your testing needs and schedule your appointment. Call us at +1(267) 388-9828 or visit our website to book your comprehensive neurological genetic assessment.
Early detection through genetic testing can make a significant difference in managing neurological conditions. Take the first step toward understanding your genetic health today.
