Short Description

NGS genetic DNA test detecets for variant and mutation detection in GLB1 gene for GM1-gangliosidosis type 2

PreTest Information

Clinical History of Patient who is going for GLB1 Gene GM1-gangliosidosis type 2 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with GM1-gangliosidosis type 2

Detail Description

GLB1 Gene GM1-gangliosidosis type 2 NGS Genetic DNA Test

GM1-gangliosidosis type 2 is a rare genetic disorder that affects the central nervous system. The GLB1 gene is responsible for producing an enzyme that breaks down a substance called GM1-ganglioside. In individuals with GM1-gangliosidosis type 2, there is a deficiency of this enzyme which leads to the accumulation of GM1-ganglioside in the brain and other organs. This buildup causes damage to the nerve cells, leading to the symptoms of the disease.

Symptoms

The symptoms of GM1-gangliosidosis type 2 usually appear in early childhood and progressively worsen over time. The severity of the symptoms can vary widely between individuals, even within the same family. Some of the common symptoms include:

• Developmental delay
• Seizures
• Loss of motor skills
• Intellectual disability
• Speech difficulties
• Abnormal eye movements

Diagnosis

GM1-gangliosidosis type 2 can be diagnosed through genetic testing. NGS Genetic DNA Test is a comprehensive test that analyzes multiple genes, including the GLB1 gene. This test can identify any changes or mutations in the gene that may be causing the disease. A diagnosis of GM1-gangliosidosis type 2 can help individuals and their families better understand the disease and plan for appropriate care and management.

Cost

The cost of the GLB1 Gene GM1-gangliosidosis type 2 NGS Genetic DNA Test in India is INR 20000. This test is available at DNA Labs India, a leading provider of genetic testing services in the country. DNA Labs India uses state-of-the-art technology and advanced testing methods to ensure accurate and reliable results.

Conclusion

GM1-gangliosidosis type 2 is a rare genetic disorder that can cause significant disabilities and health problems. Early diagnosis through genetic testing can help individuals and their families better understand the disease and plan for appropriate care and management. The GLB1 Gene GM1-gangliosidosis type 2 NGS Genetic DNA Test is a reliable and accurate test that is available at DNA Labs India at an affordable cost.

Genetic testing can play a crucial role in the diagnosis and management of rare genetic disorders like GM1-gangliosidosis type 2. If you or someone you know is experiencing symptoms of the disease, it is important to seek medical attention and consider genetic testing as a potential diagnostic tool.