Short Description

NGS genetic DNA test detecets for variant and mutation detection in EEF2 gene for Spinocerebellar ataxia type 26, autosomal dominant

PreTest Information

Clinical History of Patient who is going for EEF2 Gene Spinocerebellar ataxia type 26, autosomal dominant NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with EEF2 Gene Spinocerebellar ataxia type 26, autosomal dominant

Detail Description

EEF2 Gene Spinocerebellar Ataxia Type 26: Symptoms, Diagnosis, and Genetic DNA Test Cost

Spinocerebellar ataxia type 26 (SCA26) is a rare neurodegenerative disorder that affects the cerebellum, a part of the brain that controls movement and coordination. SCA26 is caused by mutations in the EEF2 gene, which provides instructions for making a protein called elongation factor 2. This protein is involved in the process of protein synthesis, which is necessary for the growth and maintenance of cells in the body.

Symptoms of SCA26

The symptoms of SCA26 usually develop in adulthood, typically in the third or fourth decade of life. The most common symptom is ataxia, which is a lack of coordination in movements. Other symptoms may include:

• Difficulty with balance and walking
• Tremors
• Slurred speech
• Difficulty with fine motor skills
• Eye movement abnormalities

SCA26 is an autosomal dominant condition, which means that a person only needs to inherit one copy of the mutated gene from one parent to develop the disorder. However, some people with the mutated gene may not show any symptoms, while others may have a more severe form of the disorder.

Diagnosis of SCA26

Diagnosis of SCA26 is usually made based on the presence of symptoms, family history, and genetic testing. A neurological examination may also be conducted to assess the extent of the ataxia and other symptoms. Genetic testing is typically done using next-generation sequencing (NGS), which can detect mutations in the EEF2 gene.

Genetic DNA Test Cost

The cost of genetic DNA testing for SCA26 in India is typically around INR 20,000. This includes the cost of the test itself as well as any counseling or consultation fees that may be associated with the testing process. Insurance may cover some or all of the cost of testing in some cases.

Conclusion

SCA26 is a rare neurodegenerative disorder that is caused by mutations in the EEF2 gene. The disorder can cause a range of symptoms, including ataxia, tremors, and difficulty with coordination and fine motor skills. Diagnosis is typically made using genetic testing, which can be done using next-generation sequencing. The cost of genetic testing for SCA26 in India is typically around INR 20,000.

If you or a loved one is experiencing symptoms of SCA26, it is important to seek medical advice and consider genetic testing to determine the cause of the symptoms.