SLC12A6 Gene Agenesis of the Corpus Callosum with Peripheral Neuropathy NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The SLC12A6 Gene Agenesis of the Corpus Callosum with Peripheral Neuropathy NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This advanced test specifically targets mutations in the SLC12A6 gene, which plays a critical role in nervous system development and function. Agenesis of the corpus callosum refers to the partial or complete absence of the corpus callosum, the brain structure that connects the two cerebral hemispheres, while peripheral neuropathy involves damage to the peripheral nerves that transmit signals between the brain, spinal cord, and the rest of the body.
What This Test Measures and Detects
This comprehensive genetic analysis utilizes Next-Generation Sequencing (NGS) technology to examine the entire SLC12A6 gene for pathogenic variants. The test specifically identifies:
- Point mutations, deletions, and insertions in the SLC12A6 gene
- Variants associated with Andermann syndrome (Charlevoix disease)
- Genetic changes affecting potassium-chloride cotransporter function
- Mutations that disrupt normal brain development and peripheral nerve integrity
Who Should Consider This Genetic Test
This specialized genetic testing is recommended for individuals presenting with specific neurological symptoms or family history patterns:
- Children or adults with developmental delays and intellectual disability
- Individuals displaying motor coordination difficulties and gait abnormalities
- Patients experiencing progressive peripheral neuropathy symptoms
- Those with confirmed or suspected corpus callosum abnormalities on brain imaging
- Individuals with a family history of similar neurological conditions
- Patients with unexplained muscle weakness, sensory loss, or reflex abnormalities
Key Benefits of SLC12A6 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and their families:
- Accurate Diagnosis: Provides definitive identification of the underlying genetic cause
- Personalized Treatment Planning: Enables targeted management strategies for neurological symptoms
- Genetic Counseling: Offers valuable information for family planning and recurrence risk assessment
- Early Intervention: Facilitates timely implementation of supportive therapies and educational support
- Prognostic Information: Helps understand the expected disease progression and potential complications
- Research Contribution: Contributes to ongoing scientific understanding of rare neurological disorders
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your SLC12A6 gene test results:
- Positive Result: Indicates the presence of a pathogenic variant in the SLC12A6 gene, confirming the diagnosis of Agenesis of the Corpus Callosum with Peripheral Neuropathy
- Negative Result: Suggests that no disease-causing mutations were detected in the SLC12A6 gene, though other genetic or non-genetic causes should still be considered
- Variant of Uncertain Significance: Some genetic changes may require additional family studies or research to determine their clinical significance
- Carrier Status: Identifies individuals who carry one copy of a mutated gene but may not show symptoms
Test Pricing and Availability
| Test Name | Discount Price | Regular Price |
|---|---|---|
| SLC12A6 Gene Agenesis of the Corpus Callosum with Peripheral Neuropathy NGS Genetic DNA Test | $500 USD | $700 USD |
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 genetic counselors and neurological specialists ensures you receive comprehensive care regardless of your location.
Take Action for Your Neurological Health
Don’t let uncertainty about neurological symptoms affect your quality of life. Our SLC12A6 genetic testing provides the clarity needed for proper diagnosis and management. Contact our genetic counseling team today to schedule your test and begin your journey toward understanding and managing this complex neurological condition.
Call or WhatsApp our genetic specialists at +1(267) 388-9828 to book your comprehensive SLC12A6 genetic test today. Early diagnosis leads to better management and improved quality of life for individuals with neurological disorders.
