SLC17A5 Gene Sialuria Finnish Type NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The SLC17A5 Gene Sialuria Finnish Type NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare neurological conditions. This advanced testing method specifically targets mutations in the SLC17A5 gene, which encodes the sialin protein responsible for transporting sialic acid out of lysosomes. When this transport mechanism fails due to genetic mutations, it leads to Salla disease – a progressive neurological disorder characterized by the accumulation of free sialic acid in cells.
What Does This Test Measure?
Our NGS-based genetic test provides comprehensive analysis of the SLC17A5 gene to identify pathogenic variants associated with Salla disease. The test specifically detects:
- Point mutations, deletions, and insertions in the SLC17A5 gene
- Specific Finnish-type mutations common in individuals of Finnish descent
- Compound heterozygous mutations that may cause varying disease severity
- Novel genetic variants with potential clinical significance
Who Should Consider This Test?
This genetic test is recommended for individuals experiencing symptoms suggestive of Salla disease or those with specific risk factors:
- Infants and children showing developmental delays, particularly in motor skills
- Individuals with Finnish ancestry and neurological symptoms
- Patients presenting with ataxia, spasticity, or cognitive impairment
- Family members of individuals diagnosed with Salla disease
- Couples with family history of neurological disorders planning pregnancy
- Individuals with unexplained neurological symptoms and Finnish heritage
Key Benefits of Genetic Testing
Undergoing the SLC17A5 genetic test provides numerous advantages for patients and families:
- Accurate Diagnosis: Confirms or rules out Salla disease with high precision
- Early Intervention: Enables proactive management of symptoms
- Family Planning: Provides crucial information for genetic counseling
- Personalized Care: Guides treatment strategies based on genetic findings
- Peace of Mind: Reduces uncertainty about neurological symptoms
- Research Contribution: Helps advance understanding of rare genetic disorders
Understanding Your Test Results
Our genetic counselors provide comprehensive interpretation of your test results:
- Positive Result: Indicates presence of pathogenic SLC17A5 mutations associated with Salla disease
- Negative Result: Suggests absence of known disease-causing mutations in the SLC17A5 gene
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: Determines if you carry one copy of a mutated gene without showing symptoms
All results include detailed explanations and recommendations for next steps, including consultation with neurological specialists and genetic counselors.
Test Pricing Information
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving patients 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.
Take Control of Your Genetic Health Today
Don’t let uncertainty about neurological symptoms affect your quality of life. Our SLC17A5 Gene Sialuria Finnish Type NGS Genetic DNA Test provides the clarity you need for informed healthcare decisions. With results available in 3-4 weeks and multiple sample collection options including blood, extracted DNA, or blood spots on FTA cards, getting tested has never been more convenient.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take the first step toward understanding your neurological health.
