Short Description

NGS genetic DNA test detecets for variant and mutation detection in FGF14 gene for Spinocerebellar ataxia type 27, autosomal dominant

PreTest Information

Clinical History of Patient who is going for FGF14 Gene Spinocerebellar ataxia type 27, autosomal dominant NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with FGF14 Gene Spinocerebellar ataxia type 27, autosomal dominant

Detail Description

FGF14 Gene Spinocerebellar ataxia type 27: Symptoms, Diagnosis and NGS Genetic DNA Test Cost

Spinocerebellar ataxia type 27 is a rare genetic disorder that affects the nervous system, specifically the cerebellum. It is caused by mutations in the FGF14 gene, which provides instructions for making a protein that helps regulate the activity of other proteins in the cerebellum. The disorder is inherited in an autosomal dominant pattern, which means that a person only needs to inherit one copy of the mutated gene from either parent to develop the disorder.

Symptoms of Spinocerebellar Ataxia Type 27

The symptoms of spinocerebellar ataxia type 27 typically begin in adulthood, although they can appear earlier or later. The symptoms may include:

• Uncoordinated movements
• Difficulty with balance and coordination
• Tremors or shaking
• Slurred speech
• Difficulty swallowing
• Vision problems
• Memory and cognitive problems

The severity of the symptoms can vary widely between individuals, even among those in the same family.

Diagnosis of Spinocerebellar Ataxia Type 27

A diagnosis of spinocerebellar ataxia type 27 is typically made based on a combination of clinical symptoms, family history, and genetic testing. A neurological exam may be performed to assess the patient's coordination, reflexes, and muscle tone. Imaging tests such as MRI or CT scans may also be used to evaluate the brain and spinal cord.

Genetic testing can confirm the diagnosis of spinocerebellar ataxia type 27 by identifying mutations in the FGF14 gene. Next-generation sequencing (NGS) is a powerful tool for genetic testing that can quickly and accurately analyze large amounts of DNA. NGS genetic testing for spinocerebellar ataxia type 27 typically costs around INR 20,000 in India.

Conclusion

Spinocerebellar ataxia type 27 is a rare genetic disorder that can cause a range of neurological symptoms. It is caused by mutations in the FGF14 gene and is inherited in an autosomal dominant pattern. Diagnosis typically involves a combination of clinical evaluation, family history, and genetic testing. Next-generation sequencing is a powerful tool for genetic testing and can quickly and accurately identify mutations in the FGF14 gene. The cost of NGS genetic testing for spinocerebellar ataxia type 27 in India is typically around INR 20,000.

At DNA Labs India, we offer a range of genetic testing services, including NGS genetic testing for spinocerebellar ataxia type 27. Our team of expert geneticists and counselors can provide personalized support and guidance throughout the testing process. Contact us today to learn more about our services and how we can help you.