Short Description

NGS genetic DNA test detecets for variant and mutation detection in TMEM240 gene for Spinocerebellar ataxia type 21, autosomal dominant

PreTest Information

Clinical History of Patient who is going for TMEM240 Gene Spinocerebellar ataxia type 21, autosomal dominant NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with TMEM240 Gene Spinocerebellar ataxia type 21, autosomal dominant

Detail Description

TMEM240 Gene Spinocerebellar Ataxia Type 21: Symptoms, Diagnosis and Genetic Testing Cost in India

Spinocerebellar ataxia (SCA) is a group of progressive neurological disorders that affect coordination and balance. There are many types of SCA, and one of them is SCA21, which is caused by mutations in the TMEM240 gene.

SCA21 is an autosomal dominant disorder, which means that only one copy of the mutated gene is needed to develop the disease. The symptoms of SCA21 usually appear in early adulthood and include progressive ataxia, dysarthria, and cognitive impairment.

Symptoms of SCA21

The symptoms of SCA21 are similar to those of other types of SCA, but they may also include:

• Tremors
• Nystagmus
• Peripheral neuropathy
• Psychiatric symptoms
• Seizures

These symptoms can vary in severity and may worsen over time.

Diagnosis of SCA21

Diagnosing SCA21 can be challenging because the symptoms are similar to those of other types of SCA. However, genetic testing can confirm the presence of mutations in the TMEM240 gene.

NGS (next-generation sequencing) is a type of genetic testing that can detect mutations in multiple genes at once. This can be especially useful for diagnosing SCA21 because it is a rare disease.

Genetic Testing Cost in India

The cost of NGS genetic testing for SCA21 in India is around INR 20,000. This may vary depending on the laboratory and the specific tests that are performed.

DNA Labs India is a leading provider of genetic testing services in India. They offer a wide range of genetic tests, including NGS testing for SCA21.

Conclusion

SCA21 is a rare form of spinocerebellar ataxia that is caused by mutations in the TMEM240 gene. The symptoms of SCA21 can be similar to those of other types of SCA, but genetic testing can confirm the presence of the disease.

If you or someone you know is experiencing symptoms of SCA21, it is important to seek medical attention and consider genetic testing. DNA Labs India offers NGS genetic testing for SCA21 at an affordable cost.

Don't let SCA21 go undiagnosed. Contact DNA Labs India today to learn more about their genetic testing services.

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 TMEM240 Gene Spinocerebellar ataxia type 21, autosomal dominant NGS Genetic DNA Test