Short Description

NGS genetic DNA test detecets for variant and mutation detection in VPS13A gene for Choreoacanthocytosis

PreTest Information

Clinical History of Patient who is going for VPS13A Gene Choreoacanthocytosis NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with VPS13A Gene Choreoacanthocytosis

Detail Description

VPS13A Gene Choreoacanthocytosis NGS Genetic DNA Test: Symptoms, Diagnosis, and Cost

Choreoacanthocytosis (ChAc) is a rare neurodegenerative disorder that affects the brain and the peripheral nervous system. It is caused by mutations in the VPS13A gene, which encodes for a protein that plays a role in the transport of lipids in the cell. The disorder is characterized by involuntary movements, psychiatric symptoms, cognitive decline, and peripheral neuropathy.

NGS (Next-Generation Sequencing) is a genetic testing method that allows for the analysis of multiple genes at once. It is a powerful tool for the diagnosis of rare genetic disorders, including ChAc. The VPS13A gene can be sequenced using NGS to identify mutations that may be causing the disorder. This test can provide valuable information for patients and their families, including a definitive diagnosis, genetic counseling, and potential treatment options.

Symptoms of Choreoacanthocytosis

The symptoms of ChAc can vary from patient to patient, but they typically begin in adulthood and worsen over time. The most common symptoms include:

• Involuntary movements, such as chorea (jerky, dance-like movements), dystonia (abnormal muscle contractions), and tics
• Psychiatric symptoms, such as depression, anxiety, and obsessive-compulsive behavior
• Cognitive decline, including memory loss and difficulty with language, attention, and executive function
• Peripheral neuropathy, which can cause numbness, tingling, and weakness in the hands and feet

Other less common symptoms may include seizures, parkinsonism, and difficulty swallowing or speaking.

Diagnosis of Choreoacanthocytosis

The diagnosis of ChAc can be challenging, as the symptoms can be similar to other neurological disorders. A thorough clinical evaluation, including a medical history, physical examination, and neurological testing, is typically the first step in the diagnostic process.

Genetic testing, including NGS of the VPS13A gene, can provide a definitive diagnosis of ChAc. This test can identify mutations in the gene that are associated with the disorder. Genetic testing can also be used for carrier testing and prenatal diagnosis for families with a known mutation.

Cost of VPS13A Gene Choreoacanthocytosis NGS Genetic DNA Test

The cost of the VPS13A gene ChAc NGS genetic DNA test in India is approximately INR 20,000. The cost may vary depending on the laboratory and any additional testing that may be required. It is important to check with the laboratory regarding their specific pricing and insurance coverage policies.

Conclusion

Choreoacanthocytosis is a rare neurodegenerative disorder that can be challenging to diagnose. NGS genetic testing of the VPS13A gene can provide a definitive diagnosis and valuable information for patients and their families. The cost of the test in India is approximately INR 20,000. If you or a loved one is experiencing symptoms of ChAc, it is important to speak with a healthcare provider about the diagnostic and treatment options available.

At DNA Labs India, we offer a wide range of genetic testing services, including NGS of the VPS13A gene for the diagnosis of ChAc. Our team of experts is dedicated to providing accurate and timely results to our patients. Contact us today to learn more about our services and how we can help.

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 VPS13A Gene Choreoacanthocytosis NGS Genetic DNA Test