TSEN54 Gene Pontocerebellar Hypoplasia Type 4 NGS Genetic DNA Test
Comprehensive Introduction to TSEN54 Genetic Testing
The TSEN54 Gene Pontocerebellar Hypoplasia Type 4 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering precise identification of mutations associated with this rare but devastating brain development disorder. Pontocerebellar Hypoplasia Type 4 (PCH4) is an autosomal recessive condition characterized by progressive microcephaly, severe developmental delays, and structural brain abnormalities affecting both the cerebellum and pons regions.
This advanced genetic test is particularly crucial because early diagnosis can significantly impact clinical management and family planning decisions. The test’s importance extends beyond individual diagnosis to providing valuable information for genetic counseling and understanding inheritance patterns within families affected by this condition.
What the Test Measures and Detects
Our comprehensive NGS-based genetic test specifically targets the TSEN54 gene, which encodes a critical component of the tRNA splicing endonuclease complex. This test detects:
- Pathogenic variants and mutations in the TSEN54 gene
- Single nucleotide polymorphisms (SNPs) associated with PCH4
- Insertions, deletions, and missense mutations
- Compound heterozygous mutations
- Novel variants of uncertain significance
The test utilizes state-of-the-art Next-Generation Sequencing technology, providing comprehensive coverage of the entire TSEN54 gene with high accuracy and sensitivity. This advanced methodology ensures reliable detection of even rare or novel mutations that might be missed by conventional genetic testing methods.
Who Should Consider This Test
Clinical Indications and Symptoms
This genetic test is recommended for individuals presenting with the following symptoms or clinical scenarios:
- Infants and children with progressive microcephaly
- Patients exhibiting severe developmental delays and neurological regression
- Individuals with characteristic brain imaging findings showing pontocerebellar hypoplasia
- Children with feeding difficulties, respiratory problems, or seizures
- Patients with family history of similar neurological conditions
- Couples with previous affected children planning future pregnancies
- Individuals from populations with higher carrier frequencies
Special Considerations
This test is particularly valuable when neurological symptoms appear in early infancy and progress rapidly. Early testing can help differentiate PCH4 from other similar neurological disorders, enabling more targeted management approaches.
Benefits of Taking the TSEN54 Genetic Test
Undergoing this comprehensive genetic analysis provides numerous clinical and personal benefits:
- Accurate Diagnosis: Provides definitive diagnosis for complex neurological presentations
- Prognostic Information: Helps predict disease progression and clinical outcomes
- Family Planning: Enables informed reproductive decisions for at-risk couples
- Genetic Counseling: Supports comprehensive family risk assessment
- Clinical Management: Guides appropriate medical interventions and supportive care
- Research Contribution: Contributes to understanding of rare neurological disorders
- Psychological Relief: Provides clarity and reduces diagnostic uncertainty
Understanding Your Test Results
Interpretation Guidelines
Our comprehensive genetic counseling team provides detailed interpretation of your results:
- Positive Result: Identification of pathogenic mutations confirms PCH4 diagnosis and enables targeted management
- Negative Result: Absence of known TSEN54 mutations suggests alternative diagnoses should be considered
- Variant of Uncertain Significance: Novel genetic changes require additional family studies and clinical correlation
- Carrier Status: Identification of single mutation carriers provides important reproductive risk information
Post-Test Counseling
All positive results include comprehensive genetic counseling sessions to discuss implications for the patient and family members. Our specialists help you understand inheritance patterns, recurrence risks, and available management options.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | TSEN54 Gene Pontocerebellar Hypoplasia Type 4 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 |
| Specialty | Neurological Genetics |
Pre-Test Requirements
Before scheduling your test, please ensure you have:
- Complete clinical history of the patient
- Genetic counseling session scheduled to create a detailed family pedigree
- Appropriate consent forms completed
- Insurance information if applicable
Nationwide Accessibility
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 network ensures accessible genetic testing services regardless of your location.
Take the Next Step Toward Diagnosis
If you or your loved one is experiencing symptoms suggestive of Pontocerebellar Hypoplasia Type 4, don’t delay in seeking definitive genetic answers. Our expert team of genetic counselors and neurologists is ready to support you through every step of the testing process.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your comprehensive TSEN54 genetic testing appointment. Early diagnosis can make a significant difference in management and family planning decisions.
Our dedicated patient coordinators are available to answer your questions, explain the testing process, and help you prepare for your genetic counseling session. Take control of your neurological health with advanced genetic testing from America’s leading diagnostic provider.
