CYP7B1 Gene SPG5A NGS Genetic DNA Test
Understanding Hereditary Spastic Paraplegia Type 5A
The CYP7B1 Gene SPG5A NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, specifically designed to identify mutations in the CYP7B1 gene that cause hereditary spastic paraplegia type 5A (SPG5A). This autosomal recessive condition affects the nervous system, leading to progressive stiffness and weakness in the lower limbs. Our advanced testing methodology provides patients and healthcare providers with definitive diagnostic information crucial for managing this complex neurological disorder.
What Does the Test Detect?
This comprehensive genetic analysis utilizes next-generation sequencing (NGS) technology to examine the entire CYP7B1 gene for pathogenic variants. The test specifically identifies:
- Point mutations and small insertions/deletions in the CYP7B1 gene
- Autosomal recessive inheritance patterns
- Mutations affecting oxysterol 7-alpha-hydroxylase enzyme function
- Genetic variants associated with progressive spastic paraplegia
- Carrier status for family members
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with symptoms suggestive of hereditary spastic paraplegia, including:
- Progressive leg stiffness and weakness beginning in childhood or early adulthood
- Difficulty walking with spastic gait
- Muscle spasms and hyperreflexia in lower extremities
- Family history of similar neurological symptoms
- Unexplained progressive neurological deterioration
- Patients with suspected autosomal recessive inheritance patterns
Clinical Indications Include:
- Differential diagnosis of spastic paraplegias
- Confirmation of SPG5A diagnosis
- Genetic counseling for family planning
- Carrier testing for at-risk relatives
- Prenatal diagnosis considerations
Benefits of CYP7B1 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and families:
- Definitive Diagnosis: Confirms or rules out SPG5A with high accuracy
- Treatment Guidance: Informs targeted management strategies
- Family Planning: Provides essential information for reproductive decisions
- Prognostic Information: Helps understand disease progression patterns
- Genetic Counseling: Supports informed decision-making for entire families
- Research Contribution: Advances understanding of rare neurological disorders
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your results effectively:
- Positive Result: Indicates pathogenic mutations in both CYP7B1 gene copies, confirming SPG5A diagnosis
- Carrier Status: Identifies individuals with one mutated gene copy who may pass the condition to offspring
- Negative Result: Suggests alternative diagnoses should be considered for symptomatic individuals
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
Test Specifications
| Test Parameter | Details |
|---|---|
| Test Name | CYP7B1 Gene SPG5A 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) |
| Specialty | Neurology & Genetics |
Pre-Test Requirements
Before testing, we provide comprehensive genetic counseling services including:
- Detailed clinical history assessment
- Family pedigree chart development
- Explanation of testing process and implications
- Informed consent discussion
- Insurance and payment options review
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 genetic counselors and neurological specialists ensures you receive comprehensive care regardless of your location.
Take Control of Your Neurological Health
Don’t let uncertainty about hereditary spastic paraplegia affect your quality of life. Our CYP7B1 Gene SPG5A NGS Genetic DNA Test provides the clarity you need for informed medical decisions and family planning. With our discounted price of $500 USD and comprehensive genetic counseling services, you can access world-class neurological genetic testing without financial burden.
Ready to begin your diagnostic journey? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic health and securing your family’s future.
