Short Description

NGS genetic DNA test detecets for variant and mutation detection in GYS1 gene for Glycogen storage disease type 0 muscle

PreTest Information

Clinical History of Patient who is going for GYS1 Gene Glycogen storage disease type 0 muscle NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Glycogen storage disease type 0 muscle

Detail Description

GYS1 Gene Glycogen Storage Disease Type 0 Muscle NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Glycogen storage disease type 0 (GSD 0) is a rare genetic disorder that affects the body's ability to store glycogen. It is caused by a mutation in the GYS1 gene, which provides instructions for making the enzyme glycogen synthase. This enzyme is responsible for converting glucose into glycogen, which is stored in the liver and muscles for later use.

People with GSD 0 have a deficiency in glycogen synthase, which means they cannot store glycogen properly. This leads to low blood sugar levels, muscle weakness, and fatigue.

The symptoms of GSD 0 can vary from person to person, but common signs include:

• Hypoglycemia (low blood sugar)
• Muscle weakness
• Fatigue
• Delayed growth
• Enlarged liver and/or spleen
• Recurrent infections

Diagnosis of GSD 0 is usually done through genetic testing. A muscle biopsy may also be performed to confirm the diagnosis. Genetic testing involves analyzing a person's DNA to look for mutations in the GYS1 gene. This can be done using a next-generation sequencing (NGS) genetic DNA test.

The cost of a GYS1 gene NGS genetic DNA test at DNA Labs India is INR 20000. This test is non-invasive and can be done using a simple blood sample.

If you or someone you know is experiencing symptoms of GSD 0, it is important to seek medical attention. Early diagnosis and treatment can help manage the symptoms and prevent complications.

At DNA Labs India, we offer a wide range of genetic tests for various diseases and conditions. Our tests are reliable, accurate, and affordable. Contact us today to learn more about our services.

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 GYS1 Gene Glycogen storage disease type 0 muscle NGS Genetic DNA Test