Short Description

NGS genetic DNA test detecets for variant and mutation detection in GLB1 gene for GM1-gangliosidosis type 1

PreTest Information

Clinical History of Patient who is going for GLB1 Gene GM1-gangliosidosis type 1 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with GM1-gangliosidosis type 1

Detail Description

GLB1 Gene GM1-gangliosidosis type 1 NGS Genetic DNA Test cost INR:20000 symptoms diagnosis

GM1-gangliosidosis type 1 is a rare genetic disorder caused by mutations in the GLB1 gene. It affects the nervous system and leads to severe neurological symptoms. The disease is inherited in an autosomal recessive pattern, which means that both parents must carry a mutated GLB1 gene for their child to develop the disease.

Symptoms of GM1-gangliosidosis type 1

The symptoms of GM1-gangliosidosis type 1 usually appear in the first few months of life. These symptoms include:

• Severe muscle weakness
• Developmental delay
• Seizures
• Difficulty feeding
• Enlarged liver and spleen
• Loss of developmental milestones

As the disease progresses, it can lead to blindness, deafness, and paralysis. Unfortunately, there is currently no cure for GM1-gangliosidosis type 1, and treatment is mainly focused on managing the symptoms.

Diagnosis of GM1-gangliosidosis type 1

The diagnosis of GM1-gangliosidosis type 1 is usually made through genetic testing. This involves analyzing a sample of the patient's DNA to look for mutations in the GLB1 gene. Genetic testing can be done through a variety of methods, including next-generation sequencing (NGS).

NGS is a high-throughput DNA sequencing technology that can analyze multiple genes simultaneously. This makes it a powerful tool for genetic testing, as it can provide a comprehensive analysis of a patient's DNA in a single test. NGS is also faster and more cost-effective than traditional Sanger sequencing methods.

Cost of GM1-gangliosidosis type 1 NGS Genetic DNA Test

The cost of GM1-gangliosidosis type 1 NGS Genetic DNA Test in India is approximately INR 20,000. This cost may vary depending on the specific testing facility and the type of testing being done.

Conclusion

GM1-gangliosidosis type 1 is a rare genetic disorder that can have devastating effects on the nervous system. Early diagnosis through genetic testing is crucial for managing the symptoms of the disease and providing appropriate care for patients. NGS is a powerful tool for genetic testing, and it can provide a comprehensive analysis of a patient's DNA in a single test. If you suspect that you or a loved one may be affected by GM1-gangliosidosis type 1, speak to a genetic counselor or healthcare provider about getting tested.

At DNA Labs India, we offer a wide range of genetic testing services, including NGS-based testing for GM1-gangliosidosis type 1. Our team of expert genetic counselors and scientists can provide you with the support and guidance you need throughout the testing process. Contact us today to learn more about our services and how we can help you.