TSEN34 Gene Pontocerebellar Hypoplasia Type 2C NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Development Disorders
The TSEN34 Gene Pontocerebellar Hypoplasia Type 2C NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering families and healthcare providers definitive answers about rare brain development disorders. This advanced genetic test specifically targets mutations in the TSEN34 gene, which plays a critical role in proper brain formation and function during early development.
What This Test Measures and Detects
Our comprehensive NGS (Next-Generation Sequencing) genetic test specifically analyzes the TSEN34 gene for pathogenic variants associated with Pontocerebellar Hypoplasia Type 2C. This sophisticated testing methodology examines:
- Point mutations and single nucleotide variants in the TSEN34 gene
- Small insertions and deletions affecting gene function
- Copy number variations that may impact gene expression
- Autosomal recessive inheritance patterns characteristic of PCH2C
The TSEN34 gene encodes a crucial component of the tRNA splicing endonuclease complex, essential for proper brain development and neurological function. Mutations in this gene disrupt normal cerebellar and pontine development, leading to the characteristic features of Pontocerebellar Hypoplasia.
Who Should Consider This Genetic Test
This specialized genetic testing is recommended for individuals presenting with symptoms suggestive of Pontocerebellar Hypoplasia Type 2C, including:
- Infants and children with progressive microcephaly (small head size)
- Individuals experiencing significant developmental delays
- Patients with movement disorders, including dystonia and chorea
- Children showing signs of intellectual disability
- Individuals with family history of similar neurological conditions
- Patients with unexplained seizures or epilepsy
- Those with abnormal brain MRI findings showing cerebellar hypoplasia
Clinical Benefits of TSEN34 Genetic Testing
Undergoing the TSEN34 Gene Pontocerebellar Hypoplasia Type 2C NGS Genetic DNA Test provides numerous clinical advantages:
- Definitive Diagnosis: Provides conclusive genetic confirmation of PCH2C, eliminating diagnostic uncertainty
- Family Planning Guidance: Enables informed reproductive decisions for at-risk family members
- Personalized Medical Management: Guides appropriate therapeutic interventions and supportive care
- Prognostic Information: Helps families understand the expected disease progression and outcomes
- Early Intervention: Facilitates timely implementation of developmental therapies and support services
- Genetic Counseling: Provides comprehensive risk assessment for extended family members
Understanding Your Test Results
Our genetic specialists provide detailed interpretation of your TSEN34 gene test results:
- Positive Result: Indicates the presence of pathogenic mutations in the TSEN34 gene, confirming Pontocerebellar Hypoplasia Type 2C diagnosis
- Negative Result: Suggests that no disease-causing mutations were detected in the TSEN34 gene
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
- Carrier Status: Determines if an individual carries one copy of a mutated gene without showing symptoms
All results are accompanied by comprehensive genetic counseling to ensure complete understanding and appropriate next steps.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| TSEN34 Gene Pontocerebellar Hypoplasia Type 2C NGS Genetic DNA Test | $700 |
| Discount Price | $500 |
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
Pre-Test Requirements
Before undergoing testing, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session with our certified genetic counselors
- Development of detailed pedigree chart documenting affected family members
- Review of previous neurological evaluations and imaging studies
Nationwide Testing Availability
We proudly offer the TSEN34 Gene Pontocerebellar Hypoplasia Type 2C NGS Genetic DNA Test at our state-of-the-art facilities across the United States. Our testing centers are conveniently located in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, and Philadelphia, ensuring accessible genetic testing services for families nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about neurological symptoms delay your path to answers. Our expert team of genetic specialists and neurologists is ready to provide comprehensive testing and support. Schedule your TSEN34 genetic testing today and gain the clarity needed for informed medical decisions and family planning.
Call or WhatsApp us now at +1(267) 388-9828 to book your appointment or learn more about our neurological genetic testing services.
