Short Description

NGS genetic DNA test detecets for variant and mutation detection in PDE8B gene for Striatal degeneration

PreTest Information

Clinical History of Patient who is going for PDE8B Gene Striatal degeneration NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with PDE8B Gene Striatal degeneration

Detail Description

PDE8B Gene Striatal Degeneration NGS Genetic DNA Test Cost INR 20,000: Symptoms and Diagnosis

Striatal degeneration is a rare genetic disorder that affects the basal ganglia, a group of structures in the brain responsible for movement and coordination. It is caused by mutations in the PDE8B gene, which provides instructions for making an enzyme called phosphodiesterase 8B. This enzyme helps regulate the levels of cyclic AMP (cAMP) in cells, which is important for proper brain function.

Individuals with PDE8B gene mutations have reduced levels of cAMP in their brain cells, which can lead to the death of neurons in the basal ganglia. This can cause a range of symptoms, including:

• Difficulty with movement and coordination
• Tremors or involuntary movements
• Speech and swallowing difficulties
• Behavioral changes
• Cognitive decline

Diagnosis of striatal degeneration can be challenging, as the symptoms can overlap with those of other neurological disorders. However, genetic testing can help confirm a diagnosis and identify the specific mutation in the PDE8B gene.

NGS (next-generation sequencing) is a powerful tool for genetic testing, as it allows for the simultaneous analysis of multiple genes. DNA Labs India offers an NGS genetic DNA test for PDE8B gene mutations, which costs INR 20,000. This test can help individuals and their families understand the genetic basis of their symptoms, and may inform treatment decisions and family planning.

If you or a loved one is experiencing symptoms of striatal degeneration, it is important to speak with a healthcare provider and consider genetic testing. Early diagnosis and intervention can improve outcomes and quality of life.

At DNA Labs India, we are committed to providing accurate and affordable genetic testing services. Contact us today to learn more about our PDE8B gene NGS test and other genetic testing options.

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 PDE8B Gene Striatal degeneration NGS Genetic DNA Test