Short Description

NGS genetic DNA test detecets for variant and mutation detection in KCNA1 gene for Episodic ataxia type 1

PreTest Information

Clinical History of Patient who is going for KCNA1 Gene Episodic ataxia type 1 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with KCNA1 Gene Episodic ataxia type 1

Detail Description

KCNA1 Gene Episodic Ataxia Type 1 NGS Genetic DNA Test: Symptoms, Diagnosis and Cost in India

Episodic Ataxia Type 1 (EA1) is a rare genetic disorder that affects the nervous system and causes episodes of uncoordinated movement, difficulty in walking, and speech difficulties. It is caused by mutations in the KCNA1 gene, which provides instructions for making a protein called voltage-gated potassium channel Kv1.1.

EA1 is an autosomal dominant disorder, which means that a person needs to inherit only one copy of the mutated gene from either parent to develop the condition. The symptoms of EA1 usually appear in childhood or adolescence and may worsen with age.

Symptoms of EA1

The symptoms of EA1 can vary from person to person and may include:

• Episodes of uncoordinated movement
• Difficulty in walking
• Speech difficulties
• Headaches
• Tremors
• Weakness in the limbs
• Vertigo
• Seizures

The episodes of uncoordinated movement may last from a few seconds to several minutes and may be triggered by stress, exercise, or sudden movements.

Diagnosis of EA1

The diagnosis of EA1 is based on the symptoms, family history, and genetic testing. A DNA test can detect mutations in the KCNA1 gene that cause EA1. Next-generation sequencing (NGS) is a technique that allows the simultaneous analysis of multiple genes and can detect mutations in the KCNA1 gene with high accuracy.

The genetic testing can help confirm the diagnosis and provide information about the risk of passing the condition to future generations.

KCNA1 Gene Episodic Ataxia Type 1 NGS Genetic DNA Test Cost in India

The cost of the KCNA1 gene Episodic Ataxia Type 1 NGS Genetic DNA Test in India is around INR 20,000. The cost may vary depending on the laboratory and location.

However, it is important to note that the cost of genetic testing should not be a barrier to getting a diagnosis. Many public and private institutions offer financial assistance programs and insurance coverage for genetic testing.

Conclusion

EA1 is a rare genetic disorder that can cause episodes of uncoordinated movement, difficulty in walking, and speech difficulties. It is caused by mutations in the KCNA1 gene, which can be detected by genetic testing using NGS technology.

The KCNA1 gene Episodic Ataxia Type 1 NGS Genetic DNA Test cost in India is around INR 20,000. It is important to seek medical attention if you or your child experiences any of the symptoms of EA1 and consider genetic testing for a confirmed diagnosis.

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 KCNA1 Gene Episodic ataxia type 1 NGS Genetic DNA Test