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Episodic Ataxia Comprehensive Profile Hotspot Test

Original price was: 3,120 د.إ.Current price is: 2,810 د.إ.

-10%

The “Episodic Ataxia Comprehensive Profile Hotspot Test” is a specialized genetic test available at DNA Labs UAE, designed to identify mutations associated with episodic ataxia, a rare neurological condition characterized by sudden attacks of incoordination, dizziness, and often, muscle weakness. These episodes can vary in frequency and severity and are usually triggered by stress, physical exertion, or sudden movements. The condition is inherited in an autosomal dominant manner, meaning a mutation in just one of the two copies of the gene can lead to the disorder.

This comprehensive test focuses on hotspots within genes known to be associated with episodic ataxia, enabling precise diagnosis and helping in the management of the condition. Identifying the specific mutation can provide valuable information for treatment planning, potential lifestyle adjustments, and understanding the risk of passing the condition to offspring.

The test is priced at 2810 AED and is conducted at DNA Labs UAE, a facility known for its advanced genetic testing capabilities. This cost reflects the sophisticated nature of the test, which involves analyzing genetic material for specific mutations linked to episodic ataxia. For patients experiencing unexplained episodes of ataxia and their families, this test offers a critical step towards a clear diagnosis and the possibility of a more informed approach to treatment and management.

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EPISODIC ATAXIA COMPREHENSIVE PROFILE HOTSPOT Test

Genetic testing is an important tool in diagnosing and understanding various disorders, including episodic ataxia. DNA Labs UAE offers the Episodic Ataxia Comprehensive Profile Hotspot Test, which analyzes specific genes associated with this rare neurological disorder.

Test Components

  • KCNA1 Gene
  • CACNA1A Gene

Price

The cost of the test is 2810.0 AED.

Sample Condition

For the test, a minimum of 2 mL and up to 4 mL of whole blood from 1 Lavender Top (EDTA) tube is required. The sample should be shipped refrigerated and should not be frozen. Additionally, a duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.

Report Delivery

The sample should be submitted by Monday at 11 am, and the report will be delivered on Friday.

Method

The test is performed using PCR (Polymerase Chain Reaction) and sequencing techniques.

Test Type

The Episodic Ataxia Comprehensive Profile Hotspot Test is specifically designed to diagnose disorders of the nervous system.

Doctor

A neurologist will be responsible for ordering and interpreting the test results.

Test Department

The test is conducted in the Molecular Diagnostics department.

Pre Test Information

A duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory before conducting the test.

Test Details

Episodic ataxia is a rare neurological disorder characterized by episodes of unsteady gait and coordination problems. The Episodic Ataxia Comprehensive Profile Hotspot Test analyzes specific regions or “hotspots” in genes known to be commonly mutated in individuals with episodic ataxia. These genes include CACNA1A, ATP1A2, and SCN8A, among others. Mutations in these genes can disrupt the normal functioning of ion channels in the brain, leading to the symptoms of episodic ataxia.

The test is typically performed using a blood or saliva sample. The DNA from the sample is extracted and analyzed using advanced genetic sequencing techniques to identify any mutations or variations in the targeted hotspots of the relevant genes.

The results of the test can confirm a diagnosis of episodic ataxia and provide information about the specific genetic mutation or variation causing the condition. This information is valuable for determining the best course of treatment and for genetic counseling purposes.

It is important to note that the Episodic Ataxia Comprehensive Profile Hotspot Test is a specialized test that should be ordered by a healthcare provider with expertise in genetic testing and neurology. It is not a routine screening test and is recommended only for individuals who have symptoms or a family history suggestive of episodic ataxia.

Test Name EPISODIC ATAXIA COMPREHENSIVE PROFILE HOTSPOT Test
Components *KCNA1 Gene*CACNA1A Gene
Price 2810.0 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 Comprehensive Profile Hotspot Test is a genetic test that is used to identify specific mutations or variations in genes that are associated with episodic ataxia. Episodic ataxia is a rare neurological disorder characterized by episodes of unsteady gait and coordination problems.

The test analyzes specific regions or “hotspots” in genes that have been identified as being commonly mutated in individuals with episodic ataxia. These genes include CACNA1A, ATP1A2, and SCN8A, among others. Mutations in these genes can disrupt the normal functioning of ion channels in the brain, leading to the symptoms of episodic ataxia.

The test is typically performed using a blood or saliva sample. The DNA from the sample is extracted and analyzed using advanced genetic sequencing techniques to identify any mutations or variations in the targeted hotspots of the relevant genes.

The results of the test can help confirm a diagnosis of episodic ataxia and provide information about the specific genetic mutation or variation that is causing the condition. This information can be useful for determining the best course of treatment and for genetic counseling purposes.

It is important to note that the Episodic Ataxia Comprehensive Profile Hotspot Test is a specialized test that is typically ordered by a healthcare provider with expertise in genetic testing and neurology. It is not a routine screening test and is only recommended for individuals who have symptoms or a family history suggestive of episodic ataxia.

SKU: TEST-4819 Category:

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