EPISODIC ATAXIA TYPE 2 HOTSPOT Test
Test Cost: AED 1990.0
Symptoms, Diagnosis, and Test Details
The Episodic Ataxia Type 2 (EA2) Hotspot Test is a genetic test that specifically looks for mutations in the CACNA1A gene, which is associated with EA2. EA2 is a rare genetic disorder that causes episodes of unsteadiness and lack of coordination, known as ataxia.
The Hotspot Test focuses on specific regions of the CACNA1A gene that are known to commonly have mutations associated with EA2. By analyzing these specific regions, the test can determine if an individual has any of the known mutations that are associated with EA2.
The test is typically performed using a blood or saliva sample, which is sent to a specialized laboratory for genetic analysis. The results of the test can help confirm a diagnosis of EA2 in individuals who are experiencing symptoms of ataxia.
It is important to note that the Hotspot Test only analyzes a specific set of mutations associated with EA2. There may be other mutations in the CACNA1A gene or other genes that can also cause episodic ataxia. If the Hotspot Test comes back negative, but symptoms of ataxia persist, further genetic testing may be necessary to identify other potential causes.
Test Information
- Test Name: EPISODIC ATAXIA TYPE 2 HOTSPOT Test
- Components: CACNA1A Gene
- Price: AED 1990.0
- Sample Condition: 4 mL (2 mL min.) whole blood from 1 Lavender Top (EDTA) tube. Ship refrigerated. DO NOT FREEZE.
- Report Delivery: Sample Mon by 11 am; Report Fri
- Method: PCR, Sequencing
- Test Type: Disorders of Nervous System
- Doctor: Neurologist
- Test Department: MOLECULAR DIAGNOSTICS
- Pre Test Information: Duly filled Genomics Clinical information Requisition Form (Form 20) is mandatory.
Conclusion
Overall, the EA2 Hotspot Test is a useful tool in diagnosing individuals with EA2 by identifying specific mutations in the CACNA1A gene that are commonly associated with the disorder.
| Test Name | EPISODIC ATAXIA TYPE 2 HOTSPOT Test |
|---|---|
| Components | *CACNA1A Gene |
| Price | 1990.0 AED |
| Sample Condition | 4 mL (2 mL min.) whole blood from 1 LavenderTop(EDTA)tube. Ship refrigerated. DO NOT FREEZE. Duly filledGenomics Clinical information Requisition Form (Form 20) is mandatory. |
| Report Delivery | Sample Mon by 11 am; Report Fri |
| Method | PCR, Sequencing |
| Test type | Disorders of Nervous system |
| Doctor | Neurologist |
| Test Department: | MOLECULAR DIAGNOSTICS |
| Pre Test Information | Duly filledGenomics Clinical information Requisition Form (Form 20) is mandatory. |
| Test Details | The Episodic Ataxia Type 2 (EA2) Hotspot Test is a genetic test that specifically looks for mutations in the CACNA1A gene, which is associated with EA2. EA2 is a rare genetic disorder that causes episodes of unsteadiness and lack of coordination, known as ataxia. The Hotspot Test focuses on specific regions of the CACNA1A gene that are known to commonly have mutations associated with EA2. By analyzing these specific regions, the test can determine if an individual has any of the known mutations that are associated with EA2. The test is typically performed using a blood or saliva sample, which is sent to a specialized laboratory for genetic analysis. The results of the test can help confirm a diagnosis of EA2 in individuals who are experiencing symptoms of ataxia. It is important to note that the Hotspot Test only analyzes a specific set of mutations associated with EA2. There may be other mutations in the CACNA1A gene or other genes that can also cause episodic ataxia. If the Hotspot Test comes back negative, but symptoms of ataxia persist, further genetic testing may be necessary to identify other potential causes. Overall, the EA2 Hotspot Test is a useful tool in diagnosing individuals with EA2 by identifying specific mutations in the CACNA1A gene that are commonly associated with the disorder. |
