Short Description

NGS genetic DNA test detecets for variant and mutation detection in BEAN1 gene for Spinocerebellar ataxia type 31, autosomal dominant

PreTest Information

Clinical History of Patient who is going for BEAN1 Gene Spinocerebellar ataxia type 31, autosomal dominant NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with BEAN1 Gene Spinocerebellar ataxia type 31, autosomal dominant

Detail Description

BEAN1 Gene Spinocerebellar Ataxia Type 31: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost in India

Spinocerebellar ataxia type 31 (SCA31) is a rare genetic disorder that affects the cerebellum, the part of the brain responsible for coordinating movement. SCA31 is caused by mutations in the BEAN1 gene and is inherited in an autosomal dominant pattern, meaning that a person only needs to inherit one copy of the mutated gene from one parent to develop the condition.

Symptoms of SCA31

The symptoms of SCA31 usually develop in adulthood and gradually worsen over time. Some of the common symptoms of SCA31 include:

• Unsteady gait and difficulty with balance
• Tremors and involuntary movements
• Difficulty with speech and swallowing
• Loss of muscle coordination and control

As the condition progresses, individuals with SCA31 may also experience cognitive and psychiatric symptoms, including depression, anxiety, and memory loss.

Diagnosis of SCA31

Diagnosing SCA31 can be challenging, as the symptoms are similar to those of other neurological conditions. A comprehensive medical history, physical examination, and neurological evaluation can help doctors rule out other conditions and make a diagnosis of SCA31.

Genetic testing is the most reliable way to confirm a diagnosis of SCA31. A Next-Generation Sequencing (NGS) genetic DNA test can detect mutations in the BEAN1 gene and confirm a diagnosis of SCA31.

NGS Genetic DNA Test Cost in India

The cost of an NGS genetic DNA test for SCA31 in India can vary depending on the testing facility and location. On average, the cost of an NGS genetic DNA test for SCA31 in India is around INR 20,000.

While genetic testing can be expensive, it is often covered by health insurance plans. Individuals who suspect that they may have SCA31 or have a family history of the condition should speak with their healthcare provider about genetic testing options and insurance coverage.

Conclusion

SCA31 is a rare genetic disorder that affects movement and coordination. Genetic testing, such as an NGS genetic DNA test, can confirm a diagnosis of SCA31 and help individuals and their families understand the condition and plan for appropriate medical care. While genetic testing can be expensive, it is often covered by health insurance plans, so individuals should speak with their healthcare provider about testing options and insurance coverage.

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 BEAN1 Gene Spinocerebellar ataxia type 31, autosomal dominant NGS Genetic DNA Test