Short Description

NGS genetic DNA test detecets for variant and mutation detection in SLC1A3 gene for Episodic ataxia type 6

PreTest Information

Clinical History of Patient who is going for SLC1A3 Gene Episodic ataxia type 6 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with SLC1A3 Gene Episodic ataxia type 6

Detail Description

SLC1A3 Gene Episodic Ataxia Type 6 NGS Genetic DNA Test

Episodic Ataxia Type 6 (EA6) is a rare autosomal dominant neurological disorder that affects the cerebellum and is caused by mutations in the SLC1A3 gene. It is characterized by episodes of ataxia, which is the inability to coordinate voluntary muscle movements. The episodes can last from seconds to hours and can be triggered by stress, physical exertion, or other factors. The condition usually appears in childhood or adolescence and can worsen over time.

Symptoms of EA6

The symptoms of EA6 can vary from person to person, but they typically include:

• Episodes of ataxia
• Dizziness
• Headaches
• Nausea
• Vomiting
• Tremors
• Difficulty speaking or swallowing

Episodes of ataxia can be triggered by stress, physical exertion, or other factors. They typically last from seconds to hours and can occur several times per day or per week. Some people with EA6 may also experience seizures or other neurological symptoms.

Diagnosis of EA6

Diagnosis of EA6 is typically based on clinical symptoms and genetic testing. A neurologist may perform a physical exam and order imaging tests such as an MRI or CT scan to rule out other conditions. Genetic testing can confirm a diagnosis of EA6 by identifying mutations in the SLC1A3 gene.

NGS Genetic DNA Test

NGS Genetic DNA testing is a highly sensitive and accurate method of detecting genetic mutations. It uses next-generation sequencing technology to analyze a person's DNA and identify mutations that may be causing a particular condition. In the case of EA6, NGS Genetic DNA testing can identify mutations in the SLC1A3 gene that are associated with the disorder.

Cost of NGS Genetic DNA Test

The cost of an NGS Genetic DNA test for EA6 can vary depending on the laboratory and location. In India, DNA Labs India offers an NGS Genetic DNA test for EA6 at a cost of INR 20,000. This test includes analysis of the SLC1A3 gene and can confirm a diagnosis of EA6.

Conclusion

EA6 is a rare neurological disorder that can cause episodes of ataxia, dizziness, headaches, and other symptoms. It is caused by mutations in the SLC1A3 gene and can be diagnosed through clinical symptoms and genetic testing. NGS Genetic DNA testing is a highly sensitive and accurate method of detecting genetic mutations and can confirm a diagnosis of EA6. DNA Labs India offers an NGS Genetic DNA test for EA6 at a cost of INR 20,000.

If you or someone you know is experiencing symptoms of EA6, it is important to speak with a neurologist and consider genetic testing to confirm a diagnosis and receive appropriate treatment. Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for SLC1A3 Gene Episodic ataxia type 6 NGS Genetic DNA Test