DARS2 Gene Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The DARS2 Gene Leukoencephalopathy NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering precise identification of mutations associated with leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL). This rare autosomal recessive disorder affects the central nervous system’s white matter and requires specialized genetic analysis for accurate diagnosis.
What This Advanced Test Detects
Our comprehensive NGS-based test specifically targets the DARS2 gene, which encodes mitochondrial aspartyl-tRNA synthetase. Mutations in this gene disrupt mitochondrial protein synthesis, leading to characteristic neurological manifestations. The test identifies:
- Pathogenic variants in the DARS2 gene
- Single nucleotide polymorphisms (SNPs) affecting protein function
- Insertions and deletions that disrupt gene expression
- Compound heterozygous mutations
- Novel variants with potential clinical significance
Who Should Consider This Genetic Test?
This specialized genetic test is recommended for individuals presenting with specific neurological symptoms or clinical findings:
Clinical Indications and Symptoms
- Progressive motor deterioration with spasticity and ataxia
- Brainstem involvement symptoms including dysarthria and swallowing difficulties
- Spinal cord abnormalities detected through imaging studies
- Elevated lactate levels in blood or cerebrospinal fluid
- Characteristic MRI findings showing white matter abnormalities
- Family history of similar neurological conditions
- Unexplained developmental regression in children
- Suspected mitochondrial disorders with neurological presentation
Significant Benefits of Genetic Testing
Undergoing the DARS2 Gene Leukoencephalopathy NGS Test provides numerous advantages for patients and healthcare providers:
Diagnostic and Clinical Benefits
- Accurate Diagnosis: Provides definitive genetic confirmation of LBSL
- Personalized Treatment: Enables targeted therapeutic approaches
- Prognostic Information: Helps predict disease progression and outcomes
- Family Planning: Offers crucial information for genetic counseling
- Early Intervention: Facilitates timely management strategies
- Differential Diagnosis: Distinguishes LBSL from other leukodystrophies
Understanding Your Test Results
Our comprehensive genetic analysis provides detailed insights into your DARS2 gene status:
Result Interpretation Guidelines
- Positive Result: Identifies pathogenic mutations confirming LBSL diagnosis
- Negative Result: No mutations detected, though clinical correlation remains essential
- Variant of Uncertain Significance: Requires additional family studies and clinical evaluation
- Carrier Status: Identifies individuals with single mutation copies
All results are accompanied by detailed interpretation from our board-certified genetic specialists, ensuring you receive comprehensive guidance for next steps.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | DARS2 Gene Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 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 |
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified collection centers ensures accessible testing for patients nationwide.
Take the Next Step Toward Diagnosis
Don’t let uncertainty about neurological symptoms delay your path to accurate diagnosis. Our specialized genetic testing provides the clarity needed for informed medical decisions and personalized treatment planning.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your DARS2 Gene Leukoencephalopathy NGS Genetic DNA Test and take control of your neurological health.
Our experienced genetic counselors are available to discuss your specific situation, answer questions about the testing process, and help you understand how genetic testing can benefit your healthcare journey.
