TSEN2 Gene Pontocerebellar Hypoplasia Type 2B NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Development Disorders
The TSEN2 Gene Pontocerebellar Hypoplasia Type 2B NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, providing families and healthcare providers with critical insights into rare brain development disorders. This advanced test specifically targets mutations in the TSEN2 gene, which plays a vital role in proper brain formation and function during early development.
What Does This Test Measure?
Our comprehensive NGS-based test precisely identifies mutations and variations in the TSEN2 gene that are directly associated with pontocerebellar hypoplasia type 2B. This sophisticated genetic analysis examines:
- Point mutations and single nucleotide variants in the TSEN2 gene
- Small insertions and deletions affecting gene function
- Copy number variations that may impact gene expression
- Pathogenic variants linked to autosomal recessive inheritance patterns
Who Should Consider This Test?
This specialized genetic test is recommended for individuals and families experiencing:
- Infants with unexplained developmental delays and neurological symptoms
- Children presenting with microcephaly (abnormally small head size)
- Individuals with progressive neurological deterioration
- Families with a history of pontocerebellar hypoplasia or similar neurological conditions
- Couples planning pregnancy with known family history of neurological disorders
- Patients with unexplained cerebellar and brainstem abnormalities on imaging studies
Key Benefits of TSEN2 Genetic Testing
Choosing our comprehensive genetic analysis provides numerous advantages:
- Early Diagnosis: Enables timely intervention and management strategies
- Family Planning Guidance: Provides crucial information for genetic counseling
- Personalized Care: Helps develop targeted treatment approaches
- Accurate Prognosis: Offers insights into disease progression and outcomes
- Research Contribution: Contributes to advancing understanding of rare neurological disorders
Understanding Your Test Results
Our comprehensive genetic counseling services ensure you fully understand your test results:
- Positive Result: Indicates the presence of pathogenic TSEN2 mutations, confirming diagnosis and enabling appropriate medical management
- Negative Result: Suggests absence of known TSEN2 mutations, though other genetic causes may need investigation
- Variant of Uncertain Significance: Identifies genetic changes requiring further research and family studies
- Carrier Status: Determines if individuals carry one copy of a mutated gene without showing symptoms
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | TSEN2 Gene Pontocerebellar Hypoplasia Type 2B 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) Technology |
Pre-Test Requirements
To ensure the most accurate results, we recommend:
- Complete clinical history of the patient undergoing testing
- Genetic counseling session to create a detailed family pedigree chart
- Documentation of affected family members with similar neurological symptoms
- Review of previous neurological evaluations and imaging studies
Nationwide Testing Availability
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 you receive comprehensive care regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about neurological conditions affect your family’s future. Our TSEN2 Gene Pontocerebellar Hypoplasia Type 2B NGS Genetic DNA Test provides the answers you need for informed medical decisions and peace of mind.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and testing appointment. Our expert team is ready to guide you through every step of the process with compassion and clinical excellence.
Book your comprehensive neurological genetic testing now and take control of your family’s health journey with confidence and clarity.
