MLC1 Gene Megalencephalic Leukoencephalopathy with Subcortical Cysts NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Neurological Disorders
The MLC1 Gene Megalencephalic Leukoencephalopathy with Subcortical Cysts NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This advanced testing method utilizes Next-Generation Sequencing (NGS) technology to provide comprehensive analysis of the MLC1 gene, which plays a critical role in brain development and white matter integrity. Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare, progressive neurological disorder characterized by early-onset macrocephaly, slow neurological deterioration, and distinctive brain imaging findings.
What This Test Measures and Detects
Our specialized NGS genetic test provides comprehensive analysis of the MLC1 gene to identify:
- Pathogenic variants and mutations in the MLC1 gene
- Single nucleotide polymorphisms (SNPs) associated with MLC
- Insertions, deletions, and copy number variations
- Compound heterozygous mutations
- Novel genetic variants with clinical significance
Who Should Consider This Test
This genetic test is recommended for individuals presenting with the following symptoms or clinical indications:
- Infants or children with progressive macrocephaly (enlarged head circumference)
- Developmental delays in motor skills and coordination
- Gradual motor deterioration and ataxia
- Seizures or epilepsy of unknown origin
- Characteristic white matter abnormalities on MRI scans
- Family history of leukodystrophies or neurological disorders
- Unexplained neurological symptoms in childhood
Clinical Benefits of Genetic Testing
Undergoing MLC1 genetic testing provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out MLC, enabling proper disease management
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates timely implementation of supportive therapies
- Prognostic Information: Helps predict disease progression and clinical outcomes
- Research Contribution: Advances understanding of rare neurological disorders
Understanding Your Test Results
Our comprehensive genetic report includes detailed interpretation and clinical guidance:
- Positive Result: Indicates presence of pathogenic MLC1 mutations, confirming diagnosis
- Negative Result: Suggests MLC is unlikely, though other genetic causes should be considered
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals with single mutation who may pass condition to offspring
Test Information and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | MLC1 Gene Megalencephalic Leukoencephalopathy with Subcortical Cysts 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 |
| Methodology | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements
Before testing, we recommend:
- Complete clinical history documentation
- Genetic counseling session with our specialists
- Development of detailed family pedigree chart
- Review of previous neurological evaluations and imaging studies
Nationwide Accessibility
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 cities. Our network of certified collection centers ensures accessible genetic testing services nationwide.
Take the Next Step Toward Diagnosis
If you or your loved one is experiencing symptoms suggestive of megalencephalic leukoencephalopathy, don’t delay in seeking genetic answers. Our team of neurological genetics specialists is ready to provide comprehensive testing and support. Contact us today to schedule your genetic counseling session and testing appointment.
Call or WhatsApp: +1(267) 388-9828 to book your MLC1 genetic test and take the first step toward accurate diagnosis and proper management of neurological symptoms.
