Short Description

NGS genetic DNA test detecets for variant and mutation detection in CACNA1A gene for Episodic ataxia type 2

PreTest Information

Clinical History of Patient who is going for CACNA1A Gene Episodic ataxia type 2 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with CACNA1A Gene Episodic ataxia type 2

Detail Description

CACNA1A Gene Episodic Ataxia Type 2 NGS Genetic DNA Test: Symptoms, Diagnosis, and Cost

Episodic Ataxia Type 2 (EA2) is a rare genetic disorder that affects the nervous system. It is caused by mutations in the CACNA1A gene, which provides instructions for making a protein that helps control the flow of calcium ions into cells.

Individuals with EA2 experience episodes of imbalance and coordination problems, ranging from mild to severe. These episodes can last from minutes to days and can be triggered by stress, fatigue, or exercise. Other symptoms may include vertigo, headache, and ringing in the ears.

Diagnosis of EA2 involves a combination of clinical examination and genetic testing. Next-Generation Sequencing (NGS) technology is used to identify mutations in the CACNA1A gene. This test is highly accurate and can detect a wide range of mutations.

DNA Labs India offers a comprehensive NGS Genetic DNA Test for CACNA1A Gene Episodic Ataxia Type 2. The test is performed using state-of-the-art technology and provides accurate results within a short turnaround time. The cost of the test is INR 20,000.

Early diagnosis of EA2 is important for effective management of symptoms. Treatment may involve medications to prevent episodes and manage symptoms. Lifestyle modifications, such as reducing stress and getting enough rest, may also be helpful.

In summary, EA2 is a rare genetic disorder that can cause episodes of imbalance and coordination problems. Diagnosis involves a combination of clinical examination and genetic testing using NGS technology. DNA Labs India offers a comprehensive NGS Genetic DNA Test for CACNA1A Gene Episodic Ataxia Type 2 at a cost of INR 20,000.