Episodic Ataxia Type 1 Hotspot Test
Introduction
The Episodic Ataxia Type 1 Hotspot Test is a specialized genetic test designed to identify mutations in the KCNA1 gene, which are linked to episodic ataxia, a neurological disorder characterized by recurrent episodes of loss of coordination and balance. Understanding these genetic factors is crucial for effective diagnosis and management of the condition.
What the Test Measures
This test detects specific mutations in the KCNA1 gene, which plays a vital role in the functioning of potassium channels in the nervous system. Abnormalities in this gene can lead to episodic ataxia, affecting an individual’s ability to maintain balance and coordination.
Who Should Consider This Test
Individuals experiencing symptoms such as:
- Frequent episodes of dizziness
- Loss of balance
- Coordination difficulties
Moreover, those with a family history of episodic ataxia or related neurological disorders should consider this test. Risk factors include genetic predispositions and environmental triggers.
Benefits of Taking the Test
- Accurate diagnosis of episodic ataxia type 1.
- Informed treatment options tailored to genetic findings.
- Enhanced understanding of the condition for better management.
- Potential identification of other at-risk family members.
Understanding Your Results
Results from the Episodic Ataxia Type 1 Hotspot Test will provide insights into the presence or absence of mutations in the KCNA1 gene. A positive result may indicate a higher likelihood of developing episodic ataxia, while a negative result can help rule out this specific genetic cause.
Test Pricing
| Discount Price | Regular Price |
|---|---|
| 230,000 NGN | 300,000 NGN |
How to Book the Test
To book the Episodic Ataxia Type 1 Hotspot Test, please contact us at +2348077798758. Ensure you have a duly filled Genomics Clinical Information Requisition Form (Form 20), as it is mandatory for processing your sample.
Test Details
Sample Type: 4 mL (2 mL min.) whole blood from 1 Lavender Top (EDTA) tube. Ship refrigerated. DO NOT FREEZE.
Turnaround Time: Sample must be submitted by Monday 11 am; report available by Friday.
Specialty: Neurologist
Department: Molecular Diagnostics
Method: PCR, Sequencing
Disease Type: Disorders of Nervous System
