TSEN54 Gene Pontocerebellar Hypoplasia Type 2A NGS Genetic DNA Test
Understanding Pontocerebellar Hypoplasia Type 2A
Pontocerebellar hypoplasia type 2A (PCH2A) is a rare, inherited neurological disorder that affects brain development, specifically targeting the pons and cerebellum regions. These critical brain structures are responsible for coordinating movement, balance, and essential autonomic functions. The condition typically manifests in infancy and leads to progressive neurological deterioration, making early and accurate diagnosis crucial for proper management and family planning.
What This Test Measures and Detects
Our advanced NGS Genetic DNA Test specifically analyzes the TSEN54 gene, which encodes a crucial component of the transfer RNA splicing endonuclease complex. This test identifies:
- Pathogenic mutations in the TSEN54 gene
- Single nucleotide variants and small insertions/deletions
- Compound heterozygous mutations
- Autosomal recessive inheritance patterns
- Specific genetic markers associated with PCH2A severity
Who Should Consider This Test
This genetic test is recommended for individuals showing symptoms or with family history indicating pontocerebellar hypoplasia:
- Infants with unexplained developmental regression
- Children exhibiting progressive microcephaly
- Patients with chorea or dystonia movements
- Individuals with feeding difficulties and respiratory problems
- Families with history of similar neurological conditions
- Couples planning pregnancy with known family history
Key Clinical Indications
Specific symptoms that warrant consideration of TSEN54 testing include:
- Progressive microcephaly developing after birth
- Severe developmental delay with loss of milestones
- Extrapyramidal movement disorders
- Visual impairment and optic atrophy
- Respiratory complications requiring support
- Feeding difficulties and swallowing problems
Benefits of TSEN54 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out PCH2A with high precision
- Family Planning Guidance: Enables informed reproductive decisions
- Treatment Planning: Guides appropriate therapeutic interventions
- Prognostic Information: Helps understand disease progression expectations
- Genetic Counseling: Provides basis for comprehensive family counseling
- Research Contribution: Advances understanding of rare neurological disorders
Understanding Your Test Results
Our genetic specialists provide detailed interpretation of your results:
Positive Result
A positive result indicates the presence of pathogenic mutations in the TSEN54 gene, confirming the diagnosis of pontocerebellar hypoplasia type 2A. This information enables:
- Development of targeted care plans
- Implementation of appropriate supportive therapies
- Family genetic counseling sessions
- Connection with specialized neurological care teams
Negative Result
A negative result suggests that TSEN54 mutations are not the cause of the observed symptoms, guiding physicians toward alternative diagnostic pathways and other potential genetic causes.
Variant of Uncertain Significance
In some cases, genetic variations of unknown clinical significance may be identified. Our team provides ongoing monitoring and reclassification as new research emerges.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | TSEN54 Gene Pontocerebellar Hypoplasia Type 2A 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 and comprehensive care, we require:
- Complete clinical history of the patient
- Genetic counseling session prior to testing
- Detailed pedigree chart of affected family members
- Neurological evaluation documentation
Nationwide Accessibility
We have diagnostic centers conveniently located across the United States, serving patients 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 ensures that comprehensive genetic testing is accessible to families nationwide.
Take the Next Step Toward Answers
If you or your loved one is experiencing symptoms suggestive of pontocerebellar hypoplasia or has a family history of neurological disorders, don’t wait to get answers. Our specialized genetic testing provides the clarity needed for proper diagnosis and management.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and TSEN54 testing. Our compassionate team of genetic specialists is ready to guide you through the testing process and help you understand your results.
Early genetic diagnosis can make a significant difference in managing neurological conditions and planning for the future. Take control of your health journey with our comprehensive TSEN54 Gene Pontocerebellar Hypoplasia Type 2A NGS Genetic DNA Test.
