MLC1 Gene Mutation Analysis Agrawal Mutation
Understanding MLC1 Gene Mutation Analysis
The MLC1 Gene Mutation Analysis Agrawal Mutation test represents a cutting-edge genetic diagnostic approach specifically designed to identify mutations in the MLC1 gene that cause Megalencephalic Leukoencephalopathy with subcortical cysts (MLC). This rare autosomal recessive leukodystrophy affects brain white matter development and function, leading to significant neurological challenges. The test’s importance lies in its ability to provide definitive genetic confirmation, enabling accurate diagnosis and appropriate medical management strategies for affected individuals and their families.
What Does This Test Measure and Detect?
This specialized genetic analysis specifically targets the MLC1 gene to identify the Agrawal mutation and other pathogenic variants associated with:
- Megalencephalic Leukoencephalopathy with subcortical cysts
- Specific MLC1 gene mutations affecting myelin formation
- Genetic markers for autosomal recessive inheritance patterns
- Mutations impacting brain white matter development
Using advanced Sanger Sequencing technology, the test provides comprehensive analysis of the MLC1 gene, ensuring high accuracy in mutation detection and reliable results for clinical decision-making.
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals presenting with:
- Infants and children with macrocephaly (enlarged head circumference)
- Developmental delays in motor skills and cognitive functions
- Progressive neurological deterioration
- Family history of leukodystrophies or similar neurological conditions
- MRI findings showing white matter abnormalities and subcortical cysts
- Unexplained ataxia, spasticity, or seizure disorders
- Couples with family history planning pregnancy
Key Benefits of MLC1 Gene Mutation Testing
- Accurate Diagnosis: Provides definitive genetic confirmation of MLC
- Family Planning Guidance: Enables informed reproductive decisions
- Early Intervention: Facilitates timely medical management
- Genetic Counseling: Supports comprehensive family risk assessment
- Treatment Planning: Guides appropriate therapeutic approaches
- Prognostic Information: Helps understand disease progression patterns
Understanding Your Test Results
Your MLC1 Gene Mutation Analysis results will provide clear genetic information:
- Positive Result: Indicates presence of MLC1 gene mutations, confirming diagnosis of Megalencephalic Leukoencephalopathy
- Negative Result: No detected mutations in the MLC1 gene analyzed
- Carrier Status: Identifies individuals carrying one copy of the mutation
- Variant of Uncertain Significance: Requires further clinical correlation
Our genetic counselors are available to help interpret your results and provide comprehensive guidance on next steps and management options.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | MLC1 Gene Mutation Analysis Agrawal Mutation |
| Discount Price | $226 USD |
| Regular Price | $300 USD |
| Turnaround Time | 7-8 days |
| Sample Type | Peripheral blood/Amniotic Fluid/Chorionic villi/Cord blood |
| Test Components | Sterile container/Sterile Normal Saline Container/EDTA Vacutainer (2ml) |
| Testing Method | Sanger Sequencing |
Pre-Test Instructions
The MLC1 Gene Mutation Analysis (Agrawal Mutation) requires a Doctor’s prescription for most cases. Prescription requirements do not apply for surgical procedures, pregnancy-related testing, or individuals planning international travel. Please consult with your healthcare provider to determine if this test is appropriate for your specific situation.
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 collection centers ensures accessible genetic testing services nationwide.
Take Action Today
Don’t wait to get the genetic answers you need. Our experienced team is ready to assist you with scheduling your MLC1 Gene Mutation Analysis. For immediate assistance or to book your test, call or WhatsApp us at +1(267) 388-9828. Take the first step toward understanding your genetic health and making informed medical decisions for you and your family.
