SLC33A1 Gene SPG42 NGS Genetic DNA Test
Comprehensive Genetic Testing for Hereditary Spastic Paraplegia
The SLC33A1 Gene SPG42 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering precise detection of mutations responsible for SPG42 hereditary spastic paraplegia. This advanced next-generation sequencing technology provides unparalleled accuracy in identifying genetic variations that impact motor neuron function and mobility.
What This Test Measures and Detects
This sophisticated genetic analysis specifically targets the SLC33A1 gene, which encodes a crucial acetyl-CoA transporter protein essential for proper neurological function. The test identifies:
- Pathogenic mutations in the SLC33A1 gene associated with SPG42
- Single nucleotide variants and small insertions/deletions
- Genetic markers for autosomal dominant hereditary spastic paraplegia
- Variants affecting acetyl-CoA transport and cellular metabolism
Who Should Consider This Genetic Test
This test is particularly recommended for individuals experiencing:
- Progressive leg stiffness and muscle spasticity
- Difficulty walking or changes in gait pattern
- Family history of hereditary spastic paraplegia
- Unexplained muscle weakness in lower extremities
- Early-onset mobility issues without clear diagnosis
- Neurological symptoms matching SPG42 characteristics
Significant Benefits of Genetic Testing
Undergoing the SLC33A1 Gene SPG42 test provides numerous advantages:
- Accurate diagnosis confirmation for proper treatment planning
- Early intervention opportunities for symptom management
- Family planning guidance and genetic counseling support
- Clarification of inheritance patterns for family members
- Access to targeted therapies and clinical trial eligibility
- Peace of mind through definitive genetic information
Understanding Your Test Results
Our comprehensive genetic counseling ensures you fully comprehend your results:
- Positive Result: Indicates presence of SLC33A1 mutation; confirms SPG42 diagnosis and enables proactive management
- Negative Result: Suggests alternative causes for symptoms; guides further diagnostic evaluation
- Variant of Uncertain Significance: Requires additional family testing and clinical correlation
- All results include detailed interpretation by board-certified genetic specialists
Test Pricing and Sample Requirements
| Test Feature | Details |
|---|---|
| Test Name | SLC33A1 Gene SPG42 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 |
Nationwide Testing Accessibility
We maintain comprehensive testing facilities across the United States, with convenient locations in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network ensures accessible genetic testing services for patients throughout the country.
Take Control of Your Neurological Health
Don’t let uncertainty about hereditary neurological conditions impact your quality of life. The SLC33A1 Gene SPG42 NGS Genetic DNA Test provides the clarity needed for informed healthcare decisions and proactive management of hereditary spastic paraplegia.
Ready to schedule your genetic test? Contact our genetic counseling team today at +1(267) 388-9828 or book your appointment online. Our specialists are available to discuss your testing options, provide pre-test genetic counseling, and ensure you receive comprehensive support throughout the testing process.
