Short Description

NGS genetic DNA test detecets for variant and mutation detection in GYS2 gene for Glycogen storage disease type 0

PreTest Information

Clinical History of Patient who is going for GYS2 Gene Glycogen storage disease type 0 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Glycogen storage disease type 0

Detail Description

GYS2 Gene Glycogen Storage Disease Type 0 NGS Genetic DNA Test - Symptoms, Diagnosis and Cost

Glycogen storage disease type 0 is a rare genetic disorder that affects the way the body stores and uses glycogen, a form of sugar that is used as a source of energy. This disorder is caused by mutations in the GYS2 gene which provides instructions to make an enzyme called glycogen synthase 2. This enzyme plays a crucial role in the process of glycogen synthesis.

Symptoms of Glycogen Storage Disease Type 0

The symptoms of GSD type 0 can vary from person to person and may include:

• Low blood sugar levels (hypoglycemia)
• Fatigue and weakness
• Difficulty gaining weight or failure to thrive in infants
• Liver enlargement (hepatomegaly)
• Low muscle tone (hypotonia)
• Delayed growth and development
• Recurrent infections

Diagnosis of Glycogen Storage Disease Type 0

GSD type 0 can be diagnosed through a variety of tests including:

• Blood glucose tests
• Genetic testing
• Enzyme activity tests
• Imaging tests such as ultrasound or CT scan
• Liver biopsy

Genetic testing is the most definitive way to diagnose GSD type 0. This test looks for mutations in the GYS2 gene and can be done through a simple blood sample or cheek swab.

NGS Genetic DNA Test for GYS2 Gene Glycogen Storage Disease Type 0

Next-generation sequencing (NGS) is a powerful tool that can be used to identify mutations in the GYS2 gene. This test involves sequencing the entire gene to look for any changes that may be causing the disorder.

The cost of NGS genetic DNA test for GYS2 gene glycogen storage disease type 0 in India is around INR 20,000. However, the cost may vary depending on the laboratory and location.

Conclusion

Glycogen storage disease type 0 is a rare genetic disorder that can cause a variety of symptoms including low blood sugar levels, fatigue, and liver enlargement. Genetic testing, including NGS, is the most definitive way to diagnose this disorder. The cost of NGS genetic DNA test for GYS2 gene glycogen storage disease type 0 in India is around INR 20,000. Early diagnosis and treatment can help manage the symptoms and improve the quality of life for individuals with this disorder.

For more information on genetic testing and diagnosis of GSD type 0, you can contact DNA Labs India.

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 GYS2 Gene Glycogen storage disease type 0 NGS Genetic DNA Test