CACNA1A Gene Episodic Ataxia Type 2 NGS Genetic DNA Test
Comprehensive Introduction to CACNA1A Genetic Testing
The CACNA1A Gene Episodic Ataxia Type 2 NGS Genetic DNA Test represents a significant advancement in neurological genetic diagnostics. This specialized test focuses on identifying mutations in the CACNA1A gene, which plays a crucial role in calcium channel function within the nervous system. Episodic ataxia type 2 is a rare inherited neurological disorder characterized by recurrent episodes of poor coordination, balance problems, and vertigo that can significantly impact daily life. Understanding the genetic basis of these symptoms through precise DNA analysis provides patients and healthcare providers with essential information for accurate diagnosis and personalized treatment planning.
What This Advanced Genetic Test Detects
Our CACNA1A genetic test utilizes next-generation sequencing (NGS) technology to comprehensively analyze the entire CACNA1A gene for pathogenic variants. The test specifically identifies:
- Point mutations affecting calcium channel function
- Small insertions and deletions within the gene sequence
- Missense mutations that alter protein structure
- Nonsense mutations leading to premature stop codons
- Splice site variants affecting RNA processing
This comprehensive analysis helps determine whether an individual carries genetic changes associated with episodic ataxia type 2, providing critical diagnostic information for neurologists and genetic specialists.
Who Should Consider CACNA1A Genetic Testing?
This specialized genetic test is recommended for individuals experiencing:
- Recurrent episodes of dizziness and vertigo lasting hours to days
- Periodic coordination difficulties affecting walking and balance
- Nystagmus (involuntary eye movements) during symptomatic episodes
- Family history of similar neurological symptoms
- Unexplained migraine-like headaches with vertigo components
- Progressive ataxia symptoms beginning in childhood or early adulthood
- Suspected inherited neurological disorders with episodic characteristics
Significant Benefits of CACNA1A Genetic Testing
Undergoing CACNA1A genetic testing provides numerous advantages for patients and their families:
- Accurate Diagnosis: Confirms or rules out episodic ataxia type 2 with high precision
- Treatment Guidance: Helps neurologists develop targeted treatment strategies
- Family Planning: Provides information about inheritance patterns for future generations
- Symptom Management: Enables proactive management of episodic symptoms
- Psychological Relief: Reduces uncertainty and provides clarity about symptoms
- Research Contribution: Contributes to advancing understanding of rare neurological disorders
Understanding Your Test Results
Our comprehensive genetic counseling services help patients understand their CACNA1A test results:
- Positive Result: Indicates the presence of a pathogenic variant associated with episodic ataxia type 2, confirming the diagnosis
- Negative Result: Suggests that CACNA1A mutations are not the cause of symptoms, guiding further diagnostic evaluation
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications, requiring ongoing monitoring
- Carrier Status: Determines inheritance patterns and risks for family members
All results are accompanied by detailed explanations from our certified genetic counselors, who provide personalized guidance based on your specific genetic findings and family history.
Test Pricing and Sample Requirements
| Test Feature | Details |
|---|---|
| Test Name | CACNA1A Gene Episodic Ataxia Type 2 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 Preparation Requirements
To ensure optimal testing conditions, we require:
- Complete clinical history of the patient undergoing testing
- Genetic counseling session to document family pedigree
- Identification of affected family members in the pedigree chart
- Neurological evaluation and symptom documentation
- Informed consent for genetic testing and result interpretation
Nationwide Testing Availability
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 other cities. Our network of certified collection centers ensures accessible genetic testing services for patients throughout the country.
Take the Next Step Toward Clarity
If you or a family member experiences symptoms suggestive of episodic ataxia type 2, don’t wait to seek answers. Our CACNA1A genetic testing provides the definitive information needed for accurate diagnosis and effective management. With our discounted price of $500 USD and comprehensive genetic counseling services, you can gain valuable insights into your neurological health.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your CACNA1A Gene Episodic Ataxia Type 2 NGS Genetic DNA Test. Our expert team is ready to guide you through the testing process and help you understand your results with compassion and clinical expertise.
