Short Description

NGS genetic DNA test detecets for variant and mutation detection in GBE1 gene for Andersen disease

PreTest Information

Clinical History of Patient who is going for GBE1 Gene Andersen disease NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Andersen disease

Detail Description

GBE1 Gene Andersen disease NGS Genetic DNA Test: Symptoms, Diagnosis, and Cost

Andersen disease, also known as glycogen storage disease type IV (GSD IV), is a rare genetic disorder that affects the body's ability to store and use glycogen. This disease is caused by mutations in the GBE1 gene, which provides instructions for producing an enzyme called glycogen branching enzyme. This enzyme is responsible for breaking down glycogen molecules into glucose units, which the body uses as an energy source.

Symptoms of Andersen Disease

The symptoms of Andersen disease can vary depending on the severity of the condition. Some common symptoms include:

• Enlarged liver and spleen
• Poor growth and delayed development
• Muscle weakness and wasting
• Low blood sugar levels
• Respiratory problems
• Seizures

Andersen disease is typically diagnosed in infancy or early childhood, although some cases may not be diagnosed until adulthood.

Diagnosis of Andersen Disease

Diagnosing Andersen disease typically involves a combination of clinical evaluation, laboratory tests, and genetic testing. A doctor may perform a physical examination to check for signs of an enlarged liver or spleen, muscle weakness, or other symptoms. Blood tests may be used to measure levels of glucose, liver enzymes, and other markers of the disease.

Genetic testing is the most reliable way to diagnose Andersen disease. This involves analyzing a patient's DNA to look for mutations in the GBE1 gene. Next-generation sequencing (NGS) technology is often used for this type of testing, as it allows for the analysis of multiple genes simultaneously.

The Cost of Andersen Disease Genetic Testing

The cost of Andersen disease genetic testing can vary depending on the specific test being performed and the laboratory conducting the test. In India, the cost of NGS genetic testing for Andersen disease is typically around INR 20,000. It is important to note that this cost may not include additional fees for consultation with a genetic counselor or other healthcare professionals.

Conclusion

Andersen disease is a rare genetic disorder that can cause a range of symptoms, including enlarged liver and spleen, poor growth and development, muscle weakness, and low blood sugar levels. Diagnosis typically involves a combination of clinical evaluation, laboratory tests, and genetic testing using NGS technology. The cost of genetic testing for Andersen disease in India is typically around INR 20,000. If you suspect that you or a loved one may have Andersen disease, it is important to speak with a healthcare professional as soon as possible to discuss testing and treatment options.

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 GBE1 Gene Andersen disease NGS Genetic DNA Test