SLC16A2 Gene Pelizaeus-Merzbacher Disease NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The SLC16A2 Gene Pelizaeus-Merzbacher Disease NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the SLC16A2 gene, which plays a critical role in thyroid hormone transport within the central nervous system. This specialized genetic test utilizes next-generation sequencing technology to provide comprehensive analysis of the entire SLC16A2 gene, enabling precise detection of pathogenic variants associated with Pelizaeus-Merzbacher disease, a rare X-linked leukodystrophy affecting myelin formation.
What Does This Test Measure and Detect?
This advanced genetic test specifically targets the SLC16A2 gene (also known as MCT8), which encodes the monocarboxylate transporter 8 protein essential for thyroid hormone transport across cell membranes. The test detects:
- Point mutations, deletions, and insertions in the SLC16A2 gene
- Pathogenic variants associated with Allan-Herndon-Dudley syndrome and Pelizaeus-Merzbacher disease
- X-linked inheritance patterns through comprehensive genetic analysis
- Specific mutations affecting thyroid hormone transport in the central nervous system
Who Should Consider This Genetic Test?
Clinical Indications and Symptoms
This test is recommended for individuals presenting with:
- Early-onset neurological symptoms including nystagmus and hypotonia
- Developmental delay and intellectual disability
- Abnormal muscle tone and movement disorders
- Family history of X-linked neurological disorders
- Suspected leukodystrophy or myelin formation abnormalities
- Unexplained neurological deterioration in childhood
Key Benefits of SLC16A2 Genetic Testing
Undergoing this specialized genetic analysis provides numerous advantages:
- Accurate Diagnosis: Precise identification of SLC16A2 gene mutations enables definitive diagnosis
- Early Intervention: Early detection allows for timely therapeutic interventions
- Family Planning: Provides crucial information for genetic counseling and family planning decisions
- Personalized Treatment: Enables targeted treatment approaches based on specific genetic findings
- Prognostic Information: Helps predict disease progression and clinical outcomes
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your results:
- Positive Result: Indicates the presence of pathogenic SLC16A2 gene mutation, confirming diagnosis
- Negative Result: Suggests absence of detectable mutations in the SLC16A2 gene
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Determines if individuals carry the mutation without showing symptoms
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | SLC16A2 Gene Pelizaeus-Merzbacher Disease NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation of the patient
- Genetic counseling session to create detailed family pedigree chart
- Discussion of testing implications with our genetic specialists
- Understanding of potential outcomes and their clinical significance
Nationwide Accessibility
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 network of certified genetic testing facilities ensures consistent, high-quality results regardless of your location.
Take Control of Your Neurological Health
Don’t let uncertainty about neurological symptoms affect your quality of life. Our SLC16A2 Gene Pelizaeus-Merzbacher Disease NGS Genetic DNA Test provides the clarity you need for informed medical decisions. With our discounted price of only $500 USD and comprehensive genetic counseling support, you can access world-class neurological genetic testing.
Ready to schedule your test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic health and securing your neurological future.
