CWF19L1 Gene Spinocerebellar Ataxia Type 17 Autosomal Recessive NGS Genetic DNA Test
Comprehensive Introduction to CWF19L1 Genetic Testing
The CWF19L1 Gene Spinocerebellar Ataxia Type 17 Autosomal Recessive NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This advanced testing methodology provides precise identification of mutations within the CWF19L1 gene, which plays a critical role in the development and maintenance of cerebellar function. Spinocerebellar ataxia type 17 is a rare inherited neurological disorder characterized by progressive degeneration of the cerebellum and its connections, leading to significant motor coordination challenges.
Understanding your genetic predisposition to this condition is essential for proactive healthcare management and informed family planning decisions. Our state-of-the-art testing facility utilizes cutting-edge Next-Generation Sequencing (NGS) technology to deliver accurate, reliable results that can guide treatment strategies and provide clarity for affected individuals and their families.
What This Test Measures and Detects
This comprehensive genetic analysis specifically targets:
- Identification of pathogenic variants in the CWF19L1 gene associated with autosomal recessive inheritance
- Detection of single nucleotide polymorphisms (SNPs) and copy number variations (CNVs)
- Analysis of gene expression patterns related to cerebellar degeneration
- Assessment of mutation carrier status for family planning purposes
- Evaluation of genetic markers predictive of disease progression
The test employs sophisticated bioinformatics algorithms to analyze the entire coding region of the CWF19L1 gene, ensuring comprehensive coverage and high detection sensitivity for both known and novel mutations.
Who Should Consider This Genetic Test
Clinical Indications and Symptoms
This test is particularly recommended for individuals experiencing:
- Progressive difficulty with balance and coordination
- Unsteady gait and frequent stumbling
- Slurred speech or dysarthria
- Involuntary eye movements (nystagmus)
- Muscle stiffness or spasticity
- Family history of spinocerebellar ataxia or similar neurological conditions
- Unexplained cognitive decline in conjunction with motor symptoms
High-Risk Populations
- Individuals with confirmed family history of autosomal recessive neurological disorders
- Couples planning pregnancy with known ataxia in family medical history
- Patients with unexplained cerebellar symptoms despite normal routine neurological exams
- Those seeking definitive diagnosis for progressive coordination difficulties
Significant Benefits of Genetic Testing
Undergoing the CWF19L1 genetic test provides numerous advantages:
- Early Intervention Opportunities: Enables proactive management strategies before significant neurological decline occurs
- Accurate Diagnosis: Provides definitive answers for individuals with ambiguous neurological symptoms
- Family Planning Guidance: Informs reproductive decisions and genetic counseling for future generations
- Personalized Treatment Approaches: Guides neurologists in developing targeted therapeutic interventions
- Psychological Relief: Reduces uncertainty and provides clarity for patients and families
- Research Contribution: Advances scientific understanding of rare neurological disorders
Understanding Your Test Results
Interpretation Guidelines
Your genetic test results will fall into one of several categories:
Positive Result
A positive result indicates the presence of pathogenic mutations in both copies of the CWF19L1 gene, confirming the diagnosis of spinocerebellar ataxia type 17. This result necessitates comprehensive neurological evaluation and implementation of appropriate management strategies.
Carrier Status
Identification as a carrier means you have one mutated copy of the CWF19L1 gene. While typically asymptomatic, this status has important implications for family planning and genetic counseling.
Negative Result
A negative result suggests no pathogenic mutations were detected in the CWF19L1 gene. However, this does not completely rule out other forms of ataxia or neurological conditions, and further evaluation may be recommended.
Variant of Uncertain Significance (VUS)
Some genetic changes may be identified whose clinical significance is currently unknown. These variants require ongoing monitoring and may be reclassified as more research becomes available.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | CWF19L1 Gene Spinocerebellar Ataxia Type 17 Autosomal Recessive 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 |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
| Specialty | Neurology and Genetics |
Pre-Test Preparation Requirements
To ensure optimal testing conditions and accurate results, please prepare:
- Complete clinical history documentation of neurological symptoms
- Genetic counseling session to develop comprehensive family pedigree chart
- Information about affected family members and their symptoms
- Previous neurological evaluation records, if available
Nationwide Accessibility
We proudly serve patients across the United States with convenient testing locations 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 of certified genetic counselors and neurological specialists ensures you receive comprehensive care regardless of your location.
Take the Next Step Toward Clarity
Don’t let uncertainty about neurological symptoms affect your quality of life. Our expert team of genetic specialists and neurologists is ready to provide the answers you need. With advanced NGS technology and comprehensive genetic analysis, we deliver precise results that can transform your healthcare journey.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book the CWF19L1 Gene Spinocerebellar Ataxia Type 17 Autosomal Recessive NGS Genetic DNA Test. Take control of your neurological health with definitive genetic insights.
