Episodic Ataxia Type 2 Hotspot Test
Introduction
The Episodic Ataxia Type 2 Hotspot Test is a specialized genetic test designed to identify mutations in the CACNA1A gene, which are linked to episodic ataxia and other neurological disorders. This test is crucial for patients experiencing unexplained ataxia symptoms, providing insights that can lead to appropriate interventions and management strategies.
What the Test Measures
This test specifically detects mutations in the CACNA1A gene, which plays a vital role in the functioning of calcium channels in the nervous system. Identifying these mutations can help in diagnosing episodic ataxia type 2 and other related disorders.
Who Should Consider This Test?
Individuals who experience symptoms such as:
- Unexplained balance issues
- Coordination difficulties
- Frequent dizziness or vertigo
- Family history of neurological disorders
should consider undergoing the Episodic Ataxia Type 2 Hotspot Test. Risk factors include a personal or family history of ataxia or related neurological symptoms.
Benefits of Taking the Test
- Accurate diagnosis of episodic ataxia type 2.
- Guides treatment decisions and management plans.
- Provides valuable information for family planning.
- Helps in understanding the genetic basis of symptoms.
Understanding Your Results
Results from the Episodic Ataxia Type 2 Hotspot Test will indicate whether mutations in the CACNA1A gene are present. A positive result may confirm a diagnosis of episodic ataxia type 2, while a negative result may require further evaluation to determine the cause of symptoms.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| Episodic Ataxia Type 2 Hotspot Test | 23000 KSh | 30000 KSh |
Booking Information
We have branches across all major cities in Kenya, including Nairobi, Mombasa, Kisumu, and Nakuru. To book the Episodic Ataxia Type 2 Hotspot Test, please call or WhatsApp us at +254711564616 or visit our nearest branch. Our team is ready to assist you with the necessary pre-test instructions, including the mandatory completion of the Genomics Clinical Information Requisition Form (Form 20).
Turnaround Time
Sample collection should be done by 11 am on Monday, with results available by Friday.
Sample Type
4 mL (2 mL min.) of whole blood from 1 Lavender Top (EDTA) tube. Please ship refrigerated and do not freeze.
Specialty and Method
This test is conducted under the specialty of Neurology and the department of Molecular Diagnostics using PCR and sequencing methods.
