BICD2 Gene Spinal Muscular Atrophy Lower Extremity Autosomal Dominant Type 2 NGS Genetic DNA Test
Comprehensive Genetic Testing for Spinal Muscular Atrophy
The BICD2 Gene Spinal Muscular Atrophy Lower Extremity Autosomal Dominant Type 2 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This specialized test utilizes advanced next-generation sequencing (NGS) technology to identify mutations in the BICD2 gene, which plays a crucial role in intracellular transport and neuronal function. Understanding your genetic predisposition to this specific form of spinal muscular atrophy can provide critical insights for medical management and family planning decisions.
What Does This Test Detect?
This comprehensive genetic analysis specifically targets the BICD2 gene, which encodes the BICD cargo adapter 2 protein. This protein is essential for proper intracellular transport mechanisms, particularly in motor neurons. The test identifies:
- Pathogenic variants in the BICD2 gene associated with spinal muscular atrophy
- Autosomal dominant mutations affecting lower extremity function
- Specific genetic markers for type 2 spinal muscular atrophy
- Inheritance patterns that may affect family members
Clinical Significance of BICD2 Mutations
Mutations in the BICD2 gene disrupt normal cellular transport processes, leading to progressive degeneration of motor neurons that control muscle movement in the lower extremities. This results in the characteristic symptoms of spinal muscular atrophy affecting the legs, hips, and pelvic muscles.
Who Should Consider This Test?
This genetic test is recommended for individuals experiencing:
- Progressive weakness in the legs and hips
- Muscle atrophy primarily affecting lower extremities
- Difficulty walking or climbing stairs
- Family history of similar neurological symptoms
- Unexplained muscle weakness beginning in childhood or early adulthood
- Suspected hereditary motor neuron disorders
Family History Considerations
Since this condition follows an autosomal dominant inheritance pattern, individuals with affected parents have a 50% chance of inheriting the mutation. Genetic testing becomes particularly important for family planning and early intervention strategies.
Benefits of BICD2 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out BICD2-related spinal muscular atrophy
- Treatment Guidance: Helps neurologists develop targeted management plans
- Prognostic Information: Provides insight into disease progression and severity
- Family Planning: Enables informed reproductive decisions
- Early Intervention: Facilitates timely therapeutic interventions
- Genetic Counseling: Supports comprehensive family risk assessment
Understanding Your Test Results
Your genetic test results will fall into one of several categories:
Positive Result
A positive result indicates the presence of a pathogenic mutation in the BICD2 gene. This confirms the diagnosis of spinal muscular atrophy lower extremity autosomal dominant type 2. Our genetic counselors will provide detailed explanations and connect you with appropriate neurological specialists for comprehensive care management.
Negative Result
A negative result means no pathogenic mutations were detected in the BICD2 gene. However, this doesn’t completely rule out other forms of spinal muscular atrophy or neurological conditions. Further evaluation may be recommended based on clinical symptoms.
Variant of Uncertain Significance
In some cases, the test may identify genetic changes whose clinical significance is currently unknown. Our team monitors emerging research and may provide updated interpretations as new information becomes available.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | BICD2 Gene Spinal Muscular Atrophy Lower Extremity Autosomal Dominant Type 2 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) |
Pre-Test Requirements
To ensure accurate testing and comprehensive care, we require:
- Complete clinical history of the patient
- Genetic counseling session prior to testing
- Detailed pedigree chart of affected family members
- Neurological evaluation when indicated
Nationwide Accessibility
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified genetic counselors and neurological specialists ensures comprehensive care regardless of your location.
Take Control of Your Neurological Health
Understanding your genetic risk for BICD2-related spinal muscular atrophy empowers you to make informed healthcare decisions. Early diagnosis through genetic testing can significantly impact treatment outcomes and quality of life. Our team of genetic specialists and neurologists are committed to providing personalized care and support throughout your testing journey.
Ready to Schedule Your Test?
Don’t wait to get the answers you need. Contact our genetic counseling team today to discuss your testing options and schedule your appointment. Call us at +1(267) 388-9828 or book your test online through our secure patient portal.
Take the first step toward understanding your genetic health – schedule your BICD2 genetic test today!
