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CACNB4 Gene Episodic ataxia type 5 Genetic Test

4,400 د.إ

-21%

The CACNB4 Gene Episodic Ataxia Type 5 Genetic Test is a specialized diagnostic procedure available at DNA Labs UAE, aimed at identifying mutations in the CACNB4 gene, which are associated with Episodic Ataxia Type 5 (EA5). EA5 is a rare genetic disorder characterized by intermittent episodes of ataxia, or lack of voluntary coordination of muscle movements, including gait abnormality, as well as other potential symptoms such as vertigo, dysarthria, and nystagmus. The CACNB4 gene encodes a crucial subunit of the voltage-dependent calcium channel, playing a vital role in the proper functioning of neuronal cells. Mutations in this gene can disrupt calcium signaling, leading to the symptoms observed in EA5.

This genetic test is crucial for individuals exhibiting symptoms suggestive of episodic ataxia or for those with a family history of the condition, as it provides a definitive diagnosis by identifying the presence of specific mutations in the CACNB4 gene. Early and accurate diagnosis can aid in the management of symptoms and in making informed decisions regarding treatment and lifestyle adjustments.

The test is conducted at DNA Labs UAE, a facility known for its advanced genetic testing services. The cost of the CACNB4 Gene Episodic Ataxia Type 5 Genetic Test is 4400 AED. The process involves collecting a DNA sample, typically through a blood draw or a cheek swab, which is then analyzed in the laboratory to detect mutations in the CACNB4 gene. Results from this test can provide valuable insights for patients and their families, guiding healthcare decisions and potentially improving quality of life for those affected by EA5.

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CACNB4 Gene Episodic Ataxia Type 5 Genetic Test

Introduction

The CACNB4 gene is associated with Episodic Ataxia Type 5 (EA5), a rare genetic disorder that affects the nervous system. EA5 is characterized by recurrent episodes of ataxia, dizziness, vertigo, muscle weakness, and lack of coordination of voluntary movements.

Test Details

The CACNB4 Gene Episodic Ataxia Type 5 Genetic Test is a comprehensive analysis of an individual’s genetic makeup. It uses NGS (Next-Generation Sequencing) technology to analyze the CACNB4 gene for any mutations or variations that may be causing the disorder.

Test Components and Price

  • Test Name: CACNB4 Gene Episodic Ataxia Type 5 Genetic Test
  • Price: 4400.0 AED

Sample Condition

The test requires a blood sample, extracted DNA, or one drop of blood on an FTA card.

Report Delivery

The test results will be delivered within 3 to 4 weeks.

Test Type

The CACNB4 Gene Episodic Ataxia Type 5 Genetic Test falls under the category of Neurological Disorders.

Doctor and Test Department

The test is conducted by a Neurologist and is part of the Genetics department.

Pre Test Information

Prior to the test, a Genetic Counselling session is conducted to gather the clinical history of the patient and draw a pedigree chart of family members affected by CACNB4 Gene Episodic Ataxia Type 5.

Treatment and Management

Treatment for EA5 may involve medication to manage symptoms, physical therapy to improve coordination, and lifestyle changes to avoid triggers that may worsen symptoms.

Conclusion

The CACNB4 Gene Episodic Ataxia Type 5 Genetic Test is a valuable tool for diagnosing EA5 and providing information on the genetic basis of the disorder. It can also help identify carriers of the mutation and provide information for genetic counseling.

Test Name CACNB4 Gene Episodic ataxia type 5 Genetic Test
Components
Price 4400.0 AED
Sample Condition Blood or Extracted DNA or One drop Blood on FTA Card o
Report Delivery 3 to 4 Weeks
Method NGS Technology
Test type Neurological Disorders
Doctor Neurologist
Test Department: Genetics
Pre Test Information Clinical History of Patient who is going for CACNB4 Gene Episodic ataxia type 5 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with CACNB4 Gene Episodic ataxia type 5
Test Details

The CACNB4 gene is associated with Episodic Ataxia Type 5 (EA5), which is a rare genetic disorder that affects the nervous system. EA5 is characterized by recurrent episodes of ataxia, which is a lack of coordination of voluntary movements. Other symptoms may include dizziness, vertigo, and muscle weakness.

NGS (Next-Generation Sequencing) is a genetic test that can analyze multiple genes simultaneously, providing a comprehensive analysis of an individual’s genetic makeup. The NGS genetic test for EA5 involves sequencing the CACNB4 gene to identify any mutations or variations that may be causing the disorder.

This test can help diagnose EA5 and provide information on the genetic basis of the disorder. It can also help identify carriers of the mutation and provide information for genetic counseling. Treatment for EA5 may involve medication to manage symptoms, physical therapy to improve coordination, and lifestyle changes to avoid triggers that may exacerbate symptoms.