Short Description

NGS genetic DNA test detecets for variant and mutation detection in PDYN gene for Spinocerebellar ataxia type 23, autosomal dominant

PreTest Information

Clinical History of Patient who is going for PDYN Gene Spinocerebellar ataxia type 23, autosomal dominant NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with PDYN Gene Spinocerebellar ataxia type 23, autosomal dominant

Detail Description

Understanding Spinocerebellar Ataxia Type 23 and the PDYN Gene

Spinocerebellar ataxia type 23 (SCA23) is a rare genetic disorder that affects the nervous system. It is classified as an autosomal dominant disorder, which means that a person only needs to inherit one copy of the mutated gene from either parent to develop the condition. The PDYN gene has been identified as the gene responsible for SCA23.

What is the PDYN Gene?

The PDYN gene is located on chromosome 20 and is responsible for producing the protein prodynorphin. This protein is involved in the regulation of pain perception, mood, and addiction. Mutations in the PDYN gene can lead to a decrease in prodynorphin production, which can cause SCA23.

Symptoms of SCA23

The symptoms of SCA23 can vary from person to person, but typically include:

• Difficulty with balance and coordination
• Unsteady gait
• Tremors or shaking
• Slurred speech
• Difficulty swallowing
• Vision problems
• Muscle weakness
• Depression and anxiety

The onset of symptoms usually occurs in adulthood, but can appear earlier or later depending on the individual.

Diagnosis of SCA23

SCA23 is typically diagnosed through genetic testing, specifically Next Generation Sequencing (NGS) DNA testing. This involves analyzing a person's DNA to identify any mutations in the PDYN gene. A doctor may also perform a physical exam and neurological evaluation to assess symptoms and rule out other potential causes.

Cost of NGS Genetic DNA Test for SCA23

The cost of NGS Genetic DNA testing for SCA23 can vary depending on the provider and location. At DNA Labs India, the cost of this test is INR 20,000. However, it's important to note that insurance may cover some or all of the cost of genetic testing.

Conclusion

SCA23 is a rare genetic disorder that can have a significant impact on a person's quality of life. Understanding the role of the PDYN gene in this condition and the importance of genetic testing can help individuals and families affected by SCA23 make informed decisions about their health and treatment options.

If you suspect that you or a loved one may have SCA23, it's important to speak with a doctor and consider genetic testing to confirm a diagnosis and explore treatment options. DNA Labs India offers affordable NGS Genetic DNA testing for SCA23 and other genetic disorders.

Contact us today to learn more about our testing services and how we can help you gain insight into your genetic health.

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 PDYN Gene Spinocerebellar ataxia type 23, autosomal dominant NGS Genetic DNA Test