SPTLC2 Gene Neuropathy Hereditary Sensory and Autonomic Type 1C NGS Genetic DNA Test
Comprehensive Genetic Testing for Hereditary Neuropathy
The SPTLC2 Gene Neuropathy Hereditary Sensory and Autonomic Type 1C NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This advanced test specifically targets mutations in the SPTLC2 (serine palmitoyltransferase long chain base subunit 2) gene, which plays a critical role in sphingolipid metabolism and neuronal function. Hereditary Sensory and Autonomic Neuropathy Type 1C (HSAN1C) is a rare inherited disorder affecting the peripheral nervous system, characterized by progressive sensory loss and autonomic dysfunction.
What This Test Measures and Detects
Our comprehensive NGS genetic test analyzes the complete coding region of the SPTLC2 gene to identify pathogenic variants responsible for HSAN1C. The test detects:
- Point mutations and small insertions/deletions in the SPTLC2 gene
- Autosomal dominant inheritance patterns
- Specific genetic variants associated with impaired sphingolipid synthesis
- Mutations affecting serine palmitoyltransferase enzyme function
- Genetic markers for progressive peripheral neuropathy
Who Should Consider This Genetic Test
This specialized genetic testing is recommended for individuals experiencing:
- Progressive sensory loss in extremities
- Autonomic nervous system dysfunction symptoms
- Family history of hereditary neuropathy
- Unexplained peripheral nerve damage
- Early-onset neurological symptoms
- Planning for family genetic counseling
Key Benefits of SPTLC2 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Accurate Diagnosis: Confirms HSAN1C with precision genetic evidence
- Early Intervention: Enables proactive management strategies
- Family Planning: Informs reproductive decisions and genetic counseling
- Personalized Care: Guides targeted treatment approaches
- Prognostic Information: Helps predict disease progression
- Research Contribution: Advances understanding of rare neurological disorders
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert genetic counselors and neurologists:
- Positive Result: Indicates presence of SPTLC2 mutation; confirms HSAN1C diagnosis
- Negative Result: Suggests absence of tested mutations; other causes should be investigated
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Important for family members and genetic counseling
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | SPTLC2 Gene Neuropathy Hereditary Sensory and Autonomic Type 1C NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 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
- Genetic counseling session to create family pedigree chart
- Discussion of testing implications with healthcare provider
- Understanding of potential results and their meaning
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, San Jose, and many more. Our network of certified genetic counselors and neurological specialists ensures comprehensive care regardless of your location.
Take Control of Your Neurological Health
Don’t let uncertainty about hereditary neuropathy affect your quality of life. Our SPTLC2 genetic test provides the clarity needed for informed medical decisions and personalized treatment planning. Early genetic diagnosis can significantly impact disease management and improve long-term outcomes.
Ready to schedule your genetic test? Call our dedicated genetic counseling team at +1(267) 388-9828 or book your appointment online today. Take the first step toward understanding your genetic health and securing your neurological future.
