SLC25A19 Gene Thiamine Metabolism Dysfunction Syndrome 4 Progressive Polyneuropathy Type NGS Genetic DNA Test
Understanding SLC25A19 Gene Disorders
The SLC25A19 Gene Thiamine Metabolism Dysfunction Syndrome 4 Progressive Polyneuropathy Type NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This comprehensive test specifically targets mutations in the SLC25A19 gene, which plays a critical role in thiamine (vitamin B1) transport and metabolism within mitochondria. Thiamine is essential for proper nerve function, energy production, and neurological development.
What This Test Measures and Detects
This advanced genetic test utilizes Next Generation Sequencing (NGS) technology to comprehensively analyze the SLC25A19 gene for:
- Point mutations and single nucleotide variants
- Insertions and deletions affecting gene function
- Missense, nonsense, and frameshift mutations
- Regulatory region abnormalities
- Compound heterozygous mutations
Who Should Consider This Genetic Test
This specialized neurological genetic test is recommended for individuals experiencing:
- Progressive peripheral neuropathy symptoms
- Unexplained muscle weakness and atrophy
- Sensory disturbances including numbness and tingling
- Developmental delays in infants and children
- Family history of similar neurological conditions
- Abnormal thiamine metabolism indicators
- Progressive gait disturbances and coordination problems
Clinical Indications and Symptoms
Patients presenting with progressive polyneuropathy, particularly when combined with developmental abnormalities or metabolic disturbances, should consider this test. Early symptoms often include muscle weakness, sensory loss, and progressive neurological deterioration that may begin in infancy or early childhood.
Benefits of SLC25A19 Genetic Testing
- Early Diagnosis: Enables timely intervention before significant neurological damage occurs
- Personalized Treatment: Guides thiamine supplementation and metabolic management strategies
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Prognostic Information: Helps predict disease progression and expected outcomes
- Differential Diagnosis: Distinguishes SLC25A19-related disorders from other neurological conditions
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and neurologists:
- Positive Result: Indicates the presence of pathogenic mutations in the SLC25A19 gene, confirming the diagnosis of Thiamine Metabolism Dysfunction Syndrome 4
- Negative Result: Suggests that SLC25A19 mutations are not the cause of symptoms, though other genetic or acquired conditions should be considered
- Variant of Uncertain Significance: Some genetic changes may require additional family studies or functional analysis for proper interpretation
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | SLC25A19 Gene Thiamine Metabolism Dysfunction Syndrome 4 Progressive Polyneuropathy Type 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 |
| 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 detailed family pedigree
- Discussion of testing implications with healthcare provider
- Understanding of potential outcomes and next steps
Nationwide Testing Availability
We have convenient testing locations across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art genetic testing facilities ensure consistent, high-quality results regardless of location.
Take Action Today
Don’t let uncertainty about neurological symptoms affect your quality of life. Early genetic testing can provide answers and guide effective management strategies. Our team of genetic specialists and neurologists are ready to help you understand your genetic profile and develop personalized care plans.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your SLC25A19 genetic test or to speak with our genetic counseling team. Take the first step toward understanding your neurological health and genetic risks.
