Episodic Ataxia Type 2 Hotspot Test
Introduction
The Episodic Ataxia Type 2 Hotspot Test is a specialized genetic test that identifies mutations in the CACNA1A gene, which is linked to episodic ataxia, a disorder characterized by recurrent episodes of loss of coordination and balance. This test is essential for patients who exhibit symptoms of ataxia, aiding in the diagnosis and management of this neurological condition.
What the Test Measures
This test specifically detects mutations in the CACNA1A gene. Identifying these mutations can confirm a diagnosis of Episodic Ataxia Type 2, guiding treatment decisions and providing insights into the prognosis of the disorder.
Who Should Consider This Test
This test is recommended for individuals experiencing:
- Recurrent episodes of dizziness or imbalance
- Unexplained falls or coordination issues
- A family history of episodic ataxia or related neurological disorders
Benefits of Taking the Test
By undergoing the Episodic Ataxia Type 2 Hotspot Test, patients can:
- Obtain a clear diagnosis, allowing for targeted treatment options.
- Understand the genetic basis of their symptoms, which can aid in family planning.
- Access appropriate support and resources for managing their condition.
Understanding Your Results
Results from the test will indicate whether a mutation in the CACNA1A gene is present. A positive result confirms the diagnosis of Episodic Ataxia Type 2, while a negative result may suggest other causes for the symptoms. It is important to discuss results with a healthcare professional for proper interpretation and management.
Test Details and Pricing
Test Name | Discount Price | Regular Price |
---|---|---|
Episodic Ataxia Type 2 Hotspot Test | 230000 NGN | 300000 NGN |
How to Book the Test
To schedule your Episodic Ataxia Type 2 Hotspot Test, please contact us at +2348077798758 via call or WhatsApp. Ensure you have a duly filled Genomics Clinical Information Requisition Form (Form 20) ready, as it is mandatory for processing your test.
Test Specifications
- Turnaround Time: Sample must be submitted by Monday 11 am; report available by Friday.
- Sample Type: 4 mL (2 mL min.) whole blood from 1 Lavender Top (EDTA) tube. Ship refrigerated. DO NOT FREEZE.
- Method: PCR, Sequencing
- Specialty: Neurologist
- Department: Molecular Diagnostics
- Disease Type: Disorders of Nervous System
Take the first step towards understanding your health. Book the Episodic Ataxia Type 2 Hotspot Test today!