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Accurate Test Results for GBE1 Gene Glycogen storage disease type 4 NGS Genetic DNA Test
GBE1 Gene Glycogen storage disease type 4 NGS Genetic DNA Test Cost 20000 Rs
GBE1 Gene Glycogen storage disease type 4 NGS Genetic DNA Test Details
GBE1 Gene Glycogen Storage Disease Type 4 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis
Glycogen storage disease type 4, also known as Andersen's disease, is a rare inherited 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 making an enzyme called glycogen branching enzyme. This enzyme plays a crucial role in the breakdown and storage of glycogen, which is a complex sugar that the body uses for energy.
Symptoms of Glycogen Storage Disease Type 4
The symptoms of glycogen storage disease type 4 can vary widely depending on the severity of the condition. Some common symptoms include:
- Enlarged liver and spleen
- Poor growth
- Muscle weakness and wasting
- Difficulty breathing
- Heart failure
- Developmental delay
- Low blood sugar levels
Diagnosis of Glycogen Storage Disease Type 4
Diagnosis of glycogen storage disease type 4 typically involves a physical examination, blood tests, and genetic testing. Blood tests can show elevated levels of certain enzymes that are associated with liver damage. Genetic testing can identify mutations in the GBE1 gene that are responsible for the disease.
NGS Genetic DNA Test for Glycogen Storage Disease Type 4
The NGS genetic DNA test is a type of genetic testing that uses next-generation sequencing technology to analyze DNA samples. This test can detect mutations in the GBE1 gene that are associated with glycogen storage disease type 4.
The cost of the NGS genetic DNA test for glycogen storage disease type 4 in India is typically around INR 20,000. This cost may vary depending on the testing facility and any additional services that may be required.
Conclusion
Glycogen storage disease type 4 is a rare inherited disorder that can cause a range of symptoms, including enlarged liver and spleen, poor growth, muscle weakness, and difficulty breathing. Diagnosis of the condition typically involves a physical examination, blood tests, and genetic testing. The NGS genetic DNA test is a useful tool for identifying mutations in the GBE1 gene that are associated with the disease. If you suspect that you or a loved one may have glycogen storage disease type 4, it is important to speak with a healthcare provider to discuss testing and treatment options.
At DNA Labs India, we offer a range of genetic testing services, including the NGS genetic DNA test for glycogen storage disease type 4. Our team of experienced professionals uses state-of-the-art technology to provide accurate and reliable results. Contact us today to learn more about our services and how we can help you.
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 Glycogen storage disease type 4 NGS Genetic DNA Test
