SPTLC1 Gene HSAN1 NGS Genetic DNA Test
Comprehensive Genetic Testing for Hereditary Sensory Neuropathy Type 1
The SPTLC1 Gene HSAN1 NGS Genetic DNA Test represents a cutting-edge diagnostic tool for identifying mutations associated with Hereditary Sensory and Autonomic Neuropathy Type 1 (HSAN1). This specialized genetic test utilizes next-generation sequencing technology to provide precise analysis of the SPTLC1 gene, which plays a critical role in sphingolipid metabolism and peripheral nerve function. Early and accurate diagnosis through this test can significantly impact treatment strategies and quality of life for affected individuals.
What Does the SPTLC1 Gene HSAN1 Test Measure?
This advanced genetic test specifically targets the SPTLC1 gene, which encodes serine palmitoyltransferase long chain base subunit 1. The test detects:
- Pathogenic variants and mutations in the SPTLC1 gene
- Single nucleotide polymorphisms associated with HSAN1
- Insertions, deletions, and other structural variations
- Known disease-causing mutations linked to hereditary sensory neuropathy
Using NGS technology, the test provides comprehensive coverage of the entire SPTLC1 gene coding region, ensuring high sensitivity and specificity for mutation detection.
Who Should Consider SPTLC1 Gene Testing?
This genetic test is particularly recommended for individuals experiencing:
- Progressive sensory loss in extremities beginning in adolescence or early adulthood
- Neuropathic pain and burning sensations in hands and feet
- Autonomic dysfunction including sweating abnormalities
- Family history of similar neurological symptoms
- Unexplained peripheral neuropathy with sensory predominance
- Progressive muscle weakness and wasting
- Foot deformities or recurrent foot ulcers
Clinical Benefits of SPTLC1 Genetic Testing
Undergoing SPTLC1 gene testing provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Confirms HSAN1 diagnosis and differentiates from other neuropathies
- Family Planning: Enables informed reproductive decisions and genetic counseling
- Early Intervention: Facilitates timely management strategies to slow disease progression
- Symptom Management: Guides appropriate pain management and supportive care
- Genetic Counseling: Provides basis for family member testing and risk assessment
Understanding Your Test Results
Your SPTLC1 gene test results will fall into one of several categories:
- Positive Result: Indicates presence of known pathogenic mutation, confirming HSAN1 diagnosis
- Negative Result: No mutation detected, though other genetic causes should be considered
- Variant of Uncertain Significance: Genetic change identified with unknown clinical significance
- Carrier Status: Identifies individuals who carry one copy of mutation but may not show symptoms
Our genetic counselors will provide comprehensive interpretation and guidance based on your specific results and family history.
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | SPTLC1 Gene HSAN1 NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 USD |
| Turnaround Time | 3-4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, including major metropolitan areas such as New York City, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network of certified genetic testing facilities ensures accessible, high-quality testing services for patients nationwide.
Pre-Test Requirements
Before scheduling your SPTLC1 gene test, please ensure:
- Complete clinical history documentation is available
- Genetic counseling session is scheduled to create family pedigree chart
- Appropriate informed consent is obtained
- Insurance pre-authorization is completed if applicable
Take Control of Your Neurological Health Today
Don’t let uncertainty about hereditary neurological conditions affect your quality of life. The SPTLC1 Gene HSAN1 NGS Genetic DNA Test provides definitive answers and empowers you with knowledge for better health management. Our team of genetic specialists and neurologists are ready to support you through every step of the testing process.
Ready to schedule your genetic test? Call our dedicated genetic testing specialists at +1(267) 388-9828 or book your appointment online today. Take the first step toward understanding your genetic health and making informed decisions for your future.
