Short Description

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

PreTest Information

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

Detail Description

GLB1 Gene GM1-gangliosidosis NGS Genetic DNA Test

GLB1 gene GM1-gangliosidosis is a rare genetic disorder that affects the nervous system. The disorder is caused by a deficiency of the enzyme beta-galactosidase, which is responsible for breaking down a fatty substance called GM1 ganglioside. GM1 gangliosidosis is inherited in an autosomal recessive pattern, which means that a person must inherit two copies of the mutated GLB1 gene - one from each parent - to develop the disorder.

Symptoms of GLB1 Gene GM1-gangliosidosis

The symptoms of GLB1 gene GM1-gangliosidosis can vary widely, depending on the severity of the disease. In some cases, symptoms may not appear until later in life. Common symptoms include:

• Delayed development
• Intellectual disability
• Seizures
• Muscle weakness
• Loss of motor skills
• Blindness
• Deafness
• Organ enlargement

Diagnosis of GLB1 Gene GM1-gangliosidosis

Diagnosis of GLB1 gene GM1-gangliosidosis is done through a genetic test. The test analyzes a sample of DNA from the patient to look for mutations in the GLB1 gene. If mutations are found, it confirms the diagnosis of GM1 gangliosidosis. In some cases, additional testing may be necessary to determine the severity of the disease.

NGS Genetic DNA Test Cost for GLB1 Gene GM1-gangliosidosis

The cost of NGS genetic DNA testing for GLB1 gene GM1-gangliosidosis in India is INR 20,000. This test is available at DNA Labs India, which is a leading provider of genetic testing services in the country. The test is performed using state-of-the-art technology and is highly accurate. Results are typically available within a few weeks, depending on the volume of tests being processed.

Conclusion

GLB1 gene GM1-gangliosidosis is a rare genetic disorder that affects the nervous system. Symptoms can vary widely and may not appear until later in life. Diagnosis is done through a genetic test, which analyzes a sample of DNA from the patient to look for mutations in the GLB1 gene. The cost of NGS genetic DNA testing for GLB1 gene GM1-gangliosidosis in India is INR 20,000. DNA Labs India is a leading provider of genetic testing services in the country and offers state-of-the-art testing for this disorder.

If you suspect that you or a loved one may have GLB1 gene GM1-gangliosidosis, it is important to seek medical attention and get a proper diagnosis. Early diagnosis and treatment can help manage symptoms and improve quality of life.

For more information on GLB1 gene GM1-gangliosidosis and genetic testing, contact DNA Labs India today.

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 GLB1 Gene GM1-gangliosidosis NGS Genetic DNA Test