CLP1 Gene Pontocerebellar Hypoplasia Type 10 NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The CLP1 Gene Pontocerebellar Hypoplasia Type 10 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering precise detection of mutations associated with a rare but devastating brain development disorder. Pontocerebellar hypoplasia type 10 (PCH10) is characterized by progressive degeneration of the cerebellum and brainstem, leading to severe neurological impairments that typically manifest in early childhood.
What This Advanced Genetic Test Measures
This sophisticated diagnostic test specifically targets the CLP1 (Cleavage and Polyadenylation Factor I Subunit) gene, which plays a critical role in RNA processing and neuronal development. The test utilizes Next-Generation Sequencing (NGS) technology to:
- Identify pathogenic variants in the CLP1 gene
- Detect both inherited and de novo mutations
- Analyze the entire coding region for comprehensive coverage
- Provide detailed variant classification according to ACMG guidelines
Who Should Consider This Genetic Test
This test is recommended for individuals presenting with the following symptoms or circumstances:
- Infants and children showing developmental delays and neurological regression
- Patients with microcephaly (abnormally small head size)
- Individuals exhibiting progressive motor function deterioration
- Children with feeding difficulties and respiratory problems
- Patients with family history of pontocerebellar hypoplasia or similar neurological conditions
- Couples with previous affected children planning future pregnancies
- Prenatal testing when ultrasound reveals abnormal brain development
Significant Benefits of Early Genetic Detection
Undergoing the CLP1 Gene Pontocerebellar Hypoplasia Type 10 test provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out PCH10 with high precision
- Family Planning Guidance: Enables informed reproductive decisions
- Treatment Planning: Helps develop targeted management strategies
- Prognostic Information: Provides insight into disease progression
- Genetic Counseling: Supports families in understanding inheritance patterns
- Research Contribution: Advances scientific understanding of rare neurological disorders
Understanding Your Test Results
Our comprehensive genetic counseling ensures you fully understand your test results:
- Positive Result: Indicates the presence of a pathogenic CLP1 mutation, confirming PCH10 diagnosis
- Negative Result: Suggests CLP1 mutations are not detected, though other genetic causes may need investigation
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Determines if individuals carry one copy of a mutated gene without showing symptoms
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | CLP1 Gene Pontocerebellar Hypoplasia Type 10 NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Specialty | Neurology |
| Department | Genetics |
| Method | NGS Technology |
| Disease Type | Neurological Disorders |
Nationwide Accessibility Across USA
We have diagnostic centers conveniently located in all major cities across the United States, including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, Austin, Jacksonville, Fort Worth, Columbus, Charlotte, San Francisco, Indianapolis, Seattle, Denver, Washington DC, Boston, El Paso, Nashville, Detroit, Oklahoma City, Portland, Las Vegas, Memphis, Louisville, Baltimore, and Milwaukee.
Take Action Today for Genetic Clarity
Don’t let uncertainty about neurological symptoms delay your path to answers. Our team of genetic specialists and neurologists are ready to provide comprehensive testing and counseling services. Early genetic diagnosis can make a significant difference in management and family planning decisions.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your CLP1 Gene Pontocerebellar Hypoplasia Type 10 NGS Genetic DNA Test and take the first step toward genetic clarity and informed healthcare decisions.
