Short Description

NGS genetic DNA test detecets for variant and mutation detection in CACNA1A gene for Spinocerebellar ataxia type 6, autosomal dominant

PreTest Information

Clinical History of Patient who is going for CACNA1A Gene Spinocerebellar ataxia type 6, autosomal dominant NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with CACNA1A Gene Spinocerebellar ataxia type 6, autosomal dominant

Detail Description

CACNA1A Gene Spinocerebellar Ataxia Type 6: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

Spinocerebellar ataxia (SCA) is a genetic disorder characterized by progressive degeneration of the cerebellum and spinal cord. It affects the coordination of movements, leading to unsteadiness, gait abnormalities, and difficulty with speech and swallowing. SCA type 6 is an autosomal dominant genetic disorder caused by a mutation in the CACNA1A gene.

Symptoms of SCA Type 6

The symptoms of SCA type 6 usually begin in adulthood, typically in the fourth or fifth decade of life. The initial symptoms include gait abnormalities, unsteadiness, and difficulty with coordination. As the disease progresses, the symptoms worsen and may include:

• Difficulty with speech and swallowing
• Tremors
• Difficulty with eye movements
• Loss of balance and coordination
• Difficulty with fine motor skills
• Memory impairment

Diagnosis of SCA Type 6

The diagnosis of SCA type 6 is based on the clinical presentation and genetic testing. The genetic testing involves sequencing the CACNA1A gene to detect the mutation responsible for the disorder. The genetic testing is done using Next Generation Sequencing (NGS) technology.

NGS is a powerful tool for genetic testing that allows for the rapid and accurate sequencing of large amounts of DNA. It is a cost-effective method for genetic testing that has revolutionized the field of genetics. The NGS genetic DNA test for SCA type 6 costs INR 20,000.

Conclusion

SCA type 6 is a genetic disorder that affects the coordination of movements. It is caused by a mutation in the CACNA1A gene. The symptoms of SCA type 6 include gait abnormalities, unsteadiness, and difficulty with coordination. The diagnosis of SCA type 6 is based on the clinical presentation and genetic testing using NGS technology. The NGS genetic DNA test for SCA type 6 costs INR 20,000.

At DNA Labs India, we offer a wide range of genetic testing services, including NGS genetic DNA testing for SCA type 6. Our team of experts is dedicated to providing accurate and reliable genetic testing services to our clients. Contact us today to learn more about our services.