EPISODIC ATAXIA TYPE 1 HOTSPOT Test
Cost: AED 1990.0
Introduction
The Episodic Ataxia Type 1 Hotspot Test is a genetic test offered by DNA Labs UAE. This test is designed to identify mutations in the KCNA1 gene, which is associated with Episodic Ataxia Type 1 (EA1). EA1 is a rare neurological disorder characterized by episodes of uncoordinated movement (ataxia) that can last from minutes to hours.
Test Components
- KCNA1 Gene
Price
The cost of the EPISODIC ATAXIA TYPE 1 HOTSPOT Test is AED 1990.0.
Sample Condition
4 mL (2 mL min.) whole blood from 1 LavenderTop(EDTA)tube. Ship refrigerated. DO NOT FREEZE. Duly filled Genomics Clinical information Requisition Form (Form 20) is mandatory.
Report Delivery
SampleMon 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.
Test Details
The Episodic Ataxia Type 1 Hotspot Test is a genetic test used to identify mutations in the KCNA1 gene associated with Episodic Ataxia Type 1 (EA1). EA1 is a rare neurological disorder characterized by episodes of uncoordinated movement (ataxia) that can last from minutes to hours.
The KCNA1 gene provides instructions for making a protein called Kv1.1, which is involved in the normal functioning of nerve cells. Mutations in this gene can disrupt the normal activity of Kv1.1, leading to the symptoms of EA1.
The Episodic Ataxia Type 1 Hotspot Test specifically looks for mutations in a specific region of the KCNA1 gene that is known to be a hotspot for mutations associated with EA1. By identifying these mutations, the test can help confirm a diagnosis of EA1 and provide information about the specific genetic cause of the condition.
Genetic testing for EA1 can be helpful for individuals who have symptoms consistent with the disorder, as it can provide a definitive diagnosis and help guide treatment decisions. It can also be useful for family members of individuals with EA1, as it can determine if they are at risk of developing the condition themselves.
It is important to note that the Episodic Ataxia Type 1 Hotspot Test is a specialized genetic test that is typically performed by a geneticist or genetic testing laboratory. The test involves analyzing a sample of DNA, usually obtained through a blood or saliva sample, to look for specific mutations in the KCNA1 gene. The results of the test can help healthcare professionals provide personalized care and management for individuals with EA1.
| Test Name | EPISODIC ATAXIA TYPE 1 HOTSPOT Test |
|---|---|
| Components | *KCNA1 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 | SampleMon 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 1 Hotspot Test is a genetic test that is used to identify mutations in the KCNA1 gene, which is associated with Episodic Ataxia Type 1 (EA1). EA1 is a rare neurological disorder characterized by episodes of uncoordinated movement (ataxia) that can last from minutes to hours. The KCNA1 gene provides instructions for making a protein called Kv1.1, which is involved in the normal functioning of nerve cells. Mutations in this gene can disrupt the normal activity of Kv1.1, leading to the symptoms of EA1. The Episodic Ataxia Type 1 Hotspot Test specifically looks for mutations in a specific region of the KCNA1 gene that is known to be a hotspot for mutations associated with EA1. By identifying these mutations, the test can help confirm a diagnosis of EA1 and provide information about the specific genetic cause of the condition. Genetic testing for EA1 can be helpful for individuals who have symptoms consistent with the disorder, as it can provide a definitive diagnosis and help guide treatment decisions. It can also be useful for family members of individuals with EA1, as it can determine if they are at risk of developing the condition themselves. It is important to note that the Episodic Ataxia Type 1 Hotspot Test is a specialized genetic test that is typically performed by a geneticist or genetic testing laboratory. The test involves analyzing a sample of DNA, usually obtained through a blood or saliva sample, to look for specific mutations in the KCNA1 gene. The results of the test can help healthcare professionals provide personalized care and management for individuals with EA1. |
