Short Description

NGS genetic DNA test detecets for variant and mutation detection in EPG5 gene for Vici syndrome

PreTest Information

Clinical History of Patient who is going for EPG5 Gene Vici syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with EPG5 Gene Vici syndrome NGS Genetic DNA Test gene EPG5

Detail Description

EPG5 Gene Vici Syndrome NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Vici syndrome is a rare, multisystem disorder that affects many parts of the body. It is caused by mutations in the EPG5 gene. This gene provides instructions for making a protein that is involved in the process of autophagy, which is the breakdown and recycling of cellular components. Mutations in the EPG5 gene disrupt this process, leading to the accumulation of damaged cellular material and the death of cells in various tissues and organs.

The symptoms of Vici syndrome can vary widely, even among individuals with the same genetic mutations. Some common features of the condition include:

• Developmental delay
• Intellectual disability
• Hypotonia (low muscle tone)
• Cataracts
• Abnormalities of the immune system
• Hearing loss
• Dysmorphic facial features
• Cardiomyopathy (heart muscle disease)
• Seizures

Diagnosis of Vici syndrome is typically based on the presence of characteristic symptoms and a genetic test to confirm the presence of mutations in the EPG5 gene. DNA Labs India provides advanced genetic testing services, including NGS (Next-Generation Sequencing) technology, which allows for the analysis of multiple genes at once. The cost of the EPG5 gene Vici syndrome NGS genetic DNA test at DNA Labs India is INR 20,000.

If you or a loved one is experiencing symptoms of Vici syndrome, it is important to speak with a healthcare professional about genetic testing and treatment options. DNA Labs India is dedicated to providing accurate and affordable genetic testing services to help individuals and families better understand their health and make informed decisions about their care.

Contact DNA Labs India today to learn more about our genetic testing services.