VPS53 Gene Pontocerebellar Hypoplasia Type 2E NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The VPS53 Gene Pontocerebellar Hypoplasia Type 2E NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This advanced test specifically targets mutations in the VPS53 gene, which plays a critical role in cellular trafficking and brain development. Pontocerebellar hypoplasia type 2E is a rare, autosomal recessive disorder characterized by underdevelopment of the cerebellum and brainstem, leading to severe neurological complications that typically manifest in infancy.
What This Test Measures and Detects
Our comprehensive NGS-based analysis examines the entire VPS53 gene sequence to identify:
- Pathogenic variants and mutations in the VPS53 gene
- Single nucleotide polymorphisms (SNPs) associated with pontocerebellar hypoplasia
- Insertions, deletions, and copy number variations
- Compound heterozygous mutations that may cause the disorder
- Carrier status for autosomal recessive inheritance patterns
Who Should Consider This Test
This genetic test is recommended for individuals experiencing:
- Infants with developmental delays and neurological symptoms
- Children showing signs of microcephaly (small head size)
- Individuals with family history of pontocerebellar hypoplasia
- Patients with unexplained cerebellar ataxia or motor coordination issues
- Couples with previous affected children planning future pregnancies
- Individuals from populations with higher carrier frequencies
Key Symptoms and Clinical Indications
Common symptoms that may indicate the need for VPS53 gene testing include:
- Progressive microcephaly beginning in infancy
- Severe developmental delays in motor skills
- Intellectual disability and cognitive impairment
- Abnormal muscle tone (hypotonia or hypertonia)
- Seizures and movement disorders
- Feeding difficulties and failure to thrive
- Visual impairment and oculomotor abnormalities
Benefits of VPS53 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out pontocerebellar hypoplasia type 2E
- Early Intervention: Enables timely therapeutic interventions and management strategies
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Treatment Guidance: Helps neurologists develop targeted treatment plans
- Prognostic Information: Offers insights into disease progression and expected outcomes
- Research Contribution: Contributes to scientific understanding of rare neurological disorders
Understanding Your Test Results
Our genetic counseling team provides comprehensive interpretation of your results:
- Positive Result: Indicates the presence of pathogenic VPS53 mutations confirming diagnosis
- Negative Result: Suggests absence of known VPS53 mutations, though other genetic causes may exist
- Variant of Uncertain Significance: Requires further analysis and family studies
- Carrier Status: Identifies individuals who carry one copy of the mutated gene
All results are accompanied by detailed genetic counseling to ensure complete understanding and appropriate next steps.
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 |
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history of the patient
- Genetic counseling session to create family pedigree chart
- Discussion of testing implications with our genetic specialists
- Understanding of potential outcomes and their significance
Nationwide Availability and Booking
We have diagnostic centers conveniently located across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art facilities are equipped with the latest NGS technology and staffed by experienced genetic specialists.
Ready to Schedule Your Test?
Take the first step toward accurate diagnosis and comprehensive genetic understanding. Our dedicated team is available to answer your questions and guide you through the testing process.
Call or WhatsApp us today at +1(267) 388-9828 to book your VPS53 Gene Pontocerebellar Hypoplasia Type 2E NGS Genetic DNA Test and begin your journey toward clarity and informed medical decisions.
Our genetic counselors and neurological specialists are committed to providing compassionate care and expert guidance throughout your testing journey. With rapid 3-4 week turnaround times and comprehensive result interpretation, we ensure you receive the information needed for optimal healthcare decisions.
