DYNC1H1 Gene Spinal Muscular Atrophy Lower Extremity-Predominant Type 1 Autosomal Dominant NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The DYNC1H1 Gene Spinal Muscular Atrophy Lower Extremity-Predominant Type 1 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for individuals affected by this rare neurological condition. This specialized test utilizes advanced next-generation sequencing technology to identify specific mutations in the DYNC1H1 gene, which plays a critical role in neuronal development and motor function.
What This Test Measures and Detects
This comprehensive genetic analysis specifically targets the DYNC1H1 gene, which encodes the cytoplasmic dynein 1 heavy chain 1 protein essential for intracellular transport within motor neurons. The test identifies:
- Pathogenic variants and mutations in the DYNC1H1 gene
- Autosomal dominant inheritance patterns
- Specific genetic alterations associated with spinal muscular atrophy
- Variants affecting lower extremity motor function
- Molecular markers for disease progression and severity
Who Should Consider This Genetic Test
This test is recommended for individuals presenting with the following symptoms or clinical indications:
- Progressive muscle weakness primarily affecting the lower extremities
- Difficulty walking or abnormal gait patterns
- Muscle atrophy in the legs and hips
- Family history of similar neurological conditions
- Early-onset motor function impairment
- Suspected hereditary neuromuscular disorders
- Unexplained progressive muscle weakness
Clinical Benefits of DYNC1H1 Genetic Testing
Undergoing this specialized genetic analysis provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out DYNC1H1-related spinal muscular atrophy
- Personalized Treatment: Guides targeted therapeutic interventions
- Family Planning: Informs reproductive decisions and genetic counseling
- Prognostic Information: Provides insights into disease progression
- Early Intervention: Enables timely management strategies
- Research Contribution: Advances understanding of rare neurological conditions
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your results effectively:
- Positive Result: Indicates the presence of pathogenic DYNC1H1 mutations, confirming diagnosis
- Negative Result: Suggests absence of tested mutations, though other genetic causes may exist
- Variant of Uncertain Significance: Requires further clinical correlation and family studies
- Carrier Status: Important for family members and future generations
Test Pricing and Details
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Turnaround Time | 3-4 Weeks |
| Sample Type | Blood, Extracted DNA, or Blood on FTA Card |
Nationwide Accessibility
We have diagnostic centers conveniently located across the United States, serving major metropolitan areas including New York, Los Angeles, Chicago, Houston, Miami, and many other cities. Our network of certified genetic counselors and neurologists ensures comprehensive care coordination.
Take Control of Your Neurological Health
Don’t let uncertainty about your neurological symptoms delay proper diagnosis and treatment. Our DYNC1H1 genetic testing provides the clarity needed for informed medical decisions and personalized care planning.
Book your appointment today by calling +1(267) 388-9828 or schedule online through our secure patient portal. Our genetic specialists are ready to guide you through the testing process and help you understand your results.
