AP4B1 Gene SPG47 NGS Genetic DNA Test
Comprehensive Genetic Testing for Hereditary Spastic Paraplegia
The AP4B1 Gene SPG47 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the AP4B1 gene, which are responsible for SPG47-type hereditary spastic paraplegia. This neurological condition affects the nervous system’s ability to control muscle movement, leading to progressive stiffness and weakness in the legs. Our advanced genetic testing provides families and healthcare providers with definitive answers about this inherited neurological disorder.
What Does This Test Detect?
This specialized genetic test utilizes next-generation sequencing (NGS) technology to comprehensively analyze the AP4B1 gene for pathogenic variants. The test specifically identifies:
- Point mutations and small insertions/deletions in the AP4B1 gene
- Autosomal recessive inheritance patterns
- Genetic markers associated with SPG47 hereditary spastic paraplegia
- Variants affecting the adaptor protein complex 4 subunit beta-1
- Mutations that disrupt intracellular protein trafficking in neurons
Who Should Consider AP4B1 Genetic Testing?
This test is particularly recommended for individuals displaying symptoms of hereditary spastic paraplegia or those with a family history of neurological disorders. Key indications include:
- Progressive leg stiffness and weakness beginning in childhood
- Difficulty walking or abnormal gait patterns
- Developmental delays in motor skills
- Family history of similar neurological symptoms
- Intellectual disability or cognitive impairment
- Muscle spasticity that worsens over time
- Parents planning pregnancy with family history of SPG47
Clinical Benefits of AP4B1 Gene Testing
Undergoing AP4B1 genetic testing provides numerous advantages for patients and families:
- Definitive Diagnosis: Confirms or rules out SPG47 hereditary spastic paraplegia
- Family Planning Guidance: Enables informed reproductive decisions
- Early Intervention: Facilitates timely management of symptoms
- Treatment Planning: Guides appropriate therapeutic approaches
- Genetic Counseling: Provides comprehensive family risk assessment
- Research Contribution: Advances understanding of rare neurological disorders
Understanding Your Test Results
Our genetic testing results are carefully interpreted by board-certified genetic specialists. The report includes:
- Positive Result: Indicates presence of pathogenic AP4B1 mutations, confirming SPG47 diagnosis
- Negative Result: Suggests absence of known disease-causing variants in the AP4B1 gene
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact
- Carrier Status: Determines if individuals carry one copy of mutated gene
All results are accompanied by detailed explanations and recommendations for next steps, including referral to neurological specialists and genetic counseling services.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | AP4B1 Gene SPG47 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
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 Testing Availability
We proudly offer AP4B1 genetic testing services across the United States with convenient locations in all major metropolitan areas. Our state-of-the-art laboratories and genetic counseling services are accessible in cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Each location maintains the same high standards of genetic testing excellence and patient care.
Take Control of Your Neurological Health
Early genetic testing for hereditary spastic paraplegia can provide life-changing insights and enable proactive management of neurological symptoms. Our team of genetic specialists and neurologists work together to ensure you receive comprehensive care and support throughout the testing process.
Ready to schedule your AP4B1 Gene SPG47 NGS Genetic DNA Test? Contact our genetic counseling team today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic health and making informed decisions about your neurological care.
