Episodic Ataxia Type 1 Hotspot Test
Understanding Episodic Ataxia Type 1
Episodic Ataxia Type 1 (EA1) is a rare inherited neurological disorder characterized by recurrent episodes of poor coordination and balance (ataxia) that typically begin in childhood. These episodes can last from seconds to minutes and are often triggered by physical exertion, emotional stress, or sudden movements. The condition results from mutations in the KCNA1 gene, which encodes a potassium channel protein essential for proper nerve cell function.
What This Test Measures
The Episodic Ataxia Type 1 Hotspot Test specifically analyzes the KCNA1 gene for known pathogenic mutations associated with this neurological condition. Using advanced molecular diagnostic techniques including PCR and sequencing, our laboratory examines critical regions of the gene where mutations most commonly occur. This targeted approach ensures high accuracy in detecting the genetic variations responsible for EA1 symptoms.
Key Test Components:
- Comprehensive analysis of KCNA1 gene hotspots
- Detection of point mutations and small deletions/insertions
- Identification of known pathogenic variants
- High-resolution sequencing for accurate results
Who Should Consider This Test?
This genetic test is recommended for individuals experiencing symptoms suggestive of episodic ataxia or those with a family history of similar neurological conditions. Key indications include:
Symptoms and Clinical Presentations:
- Recurrent episodes of unsteadiness or loss of balance
- Brief attacks of coordination difficulties lasting seconds to minutes
- Muscle twitching or myokymia between ataxic episodes
- Symptoms triggered by exercise, stress, or sudden movements
- Onset of symptoms in childhood or early adolescence
- Family history of similar neurological symptoms
- Unexplained episodes of dizziness or vertigo
Benefits of Genetic Testing
Undergoing the Episodic Ataxia Type 1 Hotspot Test provides numerous advantages for patients and their families:
Diagnostic Clarity:
- Confirm or rule out EA1 diagnosis with genetic evidence
- Differentiate from other movement disorders with similar symptoms
- Provide definitive answers for unexplained neurological symptoms
Treatment Guidance:
- Inform appropriate medication choices (acetazolamide response)
- Guide lifestyle modifications to avoid triggers
- Support comprehensive neurological management
Family Planning:
- Understand inheritance patterns (autosomal dominant)
- Provide genetic counseling for family members
- Enable informed reproductive decisions
Understanding Your Test Results
Our comprehensive genetic counseling support helps you interpret your results effectively:
Positive Result:
A positive result indicates the presence of a pathogenic mutation in the KCNA1 gene, confirming the diagnosis of Episodic Ataxia Type 1. This information allows for targeted treatment approaches and provides clarity about the condition’s inheritance pattern.
Negative Result:
A negative result suggests that no known pathogenic mutations were detected in the analyzed KCNA1 gene regions. However, this does not completely rule out EA1, as rare mutations outside the tested hotspots may exist. Further evaluation may be recommended.
Variant of Uncertain Significance:
In some cases, genetic changes of unknown clinical significance may be identified. Our genetic counselors will provide guidance on the implications and recommend appropriate follow-up.
Test Pricing and Details
| Test Component | Price (USD) |
|---|---|
| Episodic Ataxia Type 1 Hotspot Test | $376 |
| Discount Price | $288 |
Turnaround Time:
Sample received by Monday 11:00 AM | Report delivered by Friday
Sample Requirements:
- 4 mL (2 mL minimum) whole blood from 1 Lavender Top (EDTA) tube
- Ship refrigerated – DO NOT FREEZE
- Completed Genomics Clinical Information Requisition Form (Form 20) mandatory
Nationwide Accessibility
We have diagnostic centers conveniently located across the United States, serving major metropolitan areas including 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 a family member experiences symptoms suggestive of episodic ataxia, don’t wait to get answers. Our specialized neurological genetics testing provides the clarity needed for proper diagnosis and management. Contact our genetic counseling team to discuss your symptoms and determine if this test is right for you.
Book your Episodic Ataxia Type 1 Hotspot Test today by calling our dedicated genetics hotline at +1(267) 388-9828 or schedule your appointment online. Take control of your neurological health with definitive genetic answers.
