SLC6A3 Gene Parkinsonism-Dystonia Infantile NGS Genetic DNA Test
Comprehensive Genetic Testing for Early-Onset Movement Disorders
The SLC6A3 Gene Parkinsonism-Dystonia Infantile NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, specifically designed to identify mutations in the SLC6A3 gene that cause dopamine transporter deficiency syndrome. This rare but serious condition manifests as infantile parkinsonism-dystonia, characterized by progressive movement abnormalities that typically appear within the first few months of life. Our advanced testing methodology provides families and healthcare providers with definitive genetic information crucial for accurate diagnosis and targeted treatment planning.
What This Test Measures and Detects
This specialized genetic test utilizes Next Generation Sequencing (NGS) technology to comprehensively analyze the SLC6A3 gene, which encodes the dopamine transporter protein DAT1. The test specifically identifies:
- Pathogenic variants and mutations in the SLC6A3 gene
- Single nucleotide polymorphisms (SNPs) affecting dopamine transport
- Deletions, insertions, and copy number variations
- Compound heterozygous and homozygous mutations
- Novel genetic variants with potential clinical significance
The SLC6A3 gene plays a critical role in dopamine reuptake from synaptic clefts, and mutations in this gene disrupt normal dopamine signaling, leading to the characteristic symptoms of infantile parkinsonism-dystonia.
Who Should Consider This Test
This genetic test is particularly recommended for infants and young children presenting with the following symptoms:
- Early-onset movement disorders appearing before age 3
- Progressive dystonia affecting multiple body regions
- Parkinsonian features including bradykinesia and rigidity
- Developmental motor delays and regression
- Oculogyric crises (abnormal eye movements)
- Feeding difficulties and failure to thrive
- Autonomic nervous system dysfunction
- Family history of similar neurological conditions
Clinical Benefits of Genetic Testing
Undergoing the SLC6A3 Gene Parkinsonism-Dystonia Infantile NGS Genetic DNA Test offers numerous advantages for patients and families:
- Accurate Diagnosis: Provides definitive genetic confirmation of dopamine transporter deficiency syndrome
- Early Intervention: Enables prompt initiation of appropriate treatments and therapies
- Personalized Treatment: Guides medication selection, particularly dopamine-related therapies
- Family Planning: Informs genetic counseling and reproductive decision-making
- Prognostic Information: Helps predict disease progression and potential complications
- Research Contribution: Advances understanding of rare neurological disorders
Understanding Your Test Results
Our comprehensive genetic analysis provides detailed insights into your child’s condition:
- Positive Result: Indicates the presence of pathogenic SLC6A3 gene mutations, confirming dopamine transporter deficiency syndrome diagnosis
- Negative Result: Suggests that SLC6A3 mutations are not the cause of symptoms, guiding further diagnostic evaluation
- Variant of Uncertain Significance: Identifies genetic changes requiring additional clinical correlation and family studies
- Carrier Status: Determines if parents carry SLC6A3 mutations, important for family planning
All results are accompanied by detailed interpretation from our board-certified genetic specialists and genetic counselors, ensuring you receive comprehensive guidance for next steps.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
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, Austin, Jacksonville, Fort Worth, Columbus, Charlotte, San Francisco, Indianapolis, Seattle, Denver, Washington DC, Boston, El Paso, Nashville, Detroit, Oklahoma City, Portland, Las Vegas, Memphis, Louisville, Baltimore, and Milwaukee.
Pre-Test Requirements
To ensure optimal testing outcomes, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to create detailed family pedigree
- Neurological examination findings
- Previous diagnostic test results
- Developmental assessment records
Take the Next Step Toward Diagnosis
Don’t let uncertainty about your child’s neurological symptoms continue. Our SLC6A3 Gene Parkinsonism-Dystonia Infantile NGS Genetic DNA Test provides the clarity needed for effective treatment planning and improved quality of life. With our discounted price of only $500 USD and comprehensive nationwide coverage, advanced genetic testing has never been more accessible.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your appointment or book your test online. Our genetic specialists are ready to guide you through the testing process and help you understand your results.
