Short Description

NGS genetic DNA test detecets for variant and mutation detection in CA8 gene for Cerebellar ataxia and mental retardation with or without quadrupedal locomotion type 3

PreTest Information

Clinical History of Patient who is going for CA8 Gene Cerebellar ataxia and mental retardation with or without quadrupedal locomotion type 3 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with CA8 Gene Cerebellar ataxia and mental retardation with or without quadrupedal locomotion type 3

Detail Description

CA8 Gene Cerebellar Ataxia and Mental Retardation with or without Quadrupedal Locomotion Type 3 NGS Genetic DNA Test

CA8 gene cerebellar ataxia and mental retardation with or without quadrupedal locomotion type 3 is a rare genetic disorder that affects the development of the cerebellum, resulting in ataxia, intellectual disability, and other neurological symptoms. This disorder is caused by mutations in the CA8 gene.

Symptoms

The symptoms of CA8 gene cerebellar ataxia and mental retardation with or without quadrupedal locomotion type 3 can vary from person to person. Some common symptoms include:

• Ataxia
• Intellectual disability
• Delayed speech development
• Seizures
• Abnormal gait
• Unsteady movements
• Difficulty with fine motor skills
• Behavioral problems
• Depression

Diagnosis

Diagnosis of CA8 gene cerebellar ataxia and mental retardation with or without quadrupedal locomotion type 3 can be difficult, as it is a rare disorder. A clinical evaluation may be performed to assess the symptoms and medical history. Genetic testing can also be done to confirm the diagnosis.

NGS Genetic DNA Test

Next-generation sequencing (NGS) genetic DNA testing can be used to identify mutations in the CA8 gene. This test is a type of genetic testing that allows for the simultaneous analysis of multiple genes or the entire genome. NGS testing can provide more comprehensive and accurate results compared to traditional genetic testing methods.

Cost

The cost of the CA8 gene cerebellar ataxia and mental retardation with or without quadrupedal locomotion type 3 NGS genetic DNA test is INR 20,000.

Conclusion

CA8 gene cerebellar ataxia and mental retardation with or without quadrupedal locomotion type 3 is a rare genetic disorder that can cause significant neurological symptoms. Genetic testing, such as NGS genetic DNA testing, can help with the diagnosis and management of this disorder. If you or someone you know is experiencing symptoms of this disorder, it is important to seek medical attention for proper diagnosis and treatment.

For more information on CA8 gene cerebellar ataxia and mental retardation with or without quadrupedal locomotion type 3 NGS genetic DNA testing, please contact DNA Labs India.