VPS13B Gene Cohen Syndrome NGS Genetic DNA Test
Comprehensive Genetic Analysis for Cohen Syndrome Detection
The VPS13B Gene Cohen Syndrome NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering unparalleled accuracy in identifying mutations responsible for Cohen syndrome. This rare autosomal recessive disorder affects multiple body systems and requires precise genetic confirmation for proper diagnosis and management.
What This Advanced Genetic Test Measures
Our state-of-the-art Next-Generation Sequencing (NGS) technology comprehensively analyzes the VPS13B gene, also known as COH1, which is located on chromosome 8q22.2. The test specifically detects:
- Pathogenic variants including missense, nonsense, and frameshift mutations
- Small deletions and insertions affecting gene function
- Splice site variants that disrupt normal protein production
- Copy number variations and larger genomic rearrangements
Clinical Indications: Who Should Consider Testing
This genetic test is recommended for individuals presenting with characteristic features of Cohen syndrome, including:
- Developmental delay and intellectual disability of varying severity
- Distinctive facial features including prominent upper central incisors
- Progressive retinal dystrophy and visual impairment
- Neutropenia and recurrent infections
- Truncal obesity with slender extremities
- Joint hypermobility and musculoskeletal abnormalities
- Microcephaly and short stature
Significant Benefits of Genetic Testing
Undergoing the VPS13B genetic analysis provides numerous advantages for patients and families:
- Accurate Diagnosis: Confirms or rules out Cohen syndrome with high precision
- Early Intervention: Enables timely implementation of appropriate therapies
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Personalized Care: Guides development of targeted management strategies
- Prognostic Information: Helps anticipate potential complications and outcomes
Understanding Your Test Results
Our comprehensive genetic counseling ensures proper interpretation of your results:
- Positive Result: Indicates presence of pathogenic VPS13B mutations confirming Cohen syndrome diagnosis
- Negative Result: Suggests Cohen syndrome is unlikely, though other genetic conditions may need consideration
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals with one mutated copy who may pass the condition to offspring
Test Specifications and Pricing
| Test Component | Details |
|---|---|
| Test Name | VPS13B Gene Cohen Syndrome 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 Methodology | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements
To ensure optimal testing outcomes, we require:
- Complete clinical history of the patient
- Genetic counseling session to create detailed family pedigree
- Documentation of affected family members when available
- Informed consent for genetic testing
Nationwide Accessibility
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, and San Jose. Our network of certified genetic counselors and medical professionals ensures consistent, high-quality care regardless of location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your quality of life. Our VPS13B Gene Cohen Syndrome NGS Genetic DNA Test provides the definitive answers you need for informed medical decisions and personalized care planning.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and testing appointment. Our dedicated team is ready to guide you through every step of the process and provide the comprehensive support you deserve.
Early genetic diagnosis can significantly impact treatment outcomes and quality of life. Take control of your genetic health journey with our advanced neurological genetic testing services.
