Short Description

NGS genetic DNA test detecets for variant and mutation detection in G6PC gene for Glycogen storage disease type 1A

PreTest Information

Clinical History of Patient who is going for G6PC Gene Glycogen storage disease type 1A NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Glycogen storage disease type 1A

Detail Description

G6PC Gene Glycogen Storage Disease Type 1A NGS Genetic DNA Test Cost INR 20000: Symptoms and Diagnosis

Glycogen storage disease type 1A (GSD1A) is a rare genetic disorder that affects the body's ability to produce and use glucose. This condition is caused by mutations in the G6PC gene, which provides instructions for making an enzyme called glucose-6-phosphatase. GSD1A leads to an abnormal accumulation of glycogen in the liver and kidneys, leading to a range of symptoms and complications.

Symptoms of GSD1A

The symptoms of GSD1A can vary from person to person, but some common signs include:

• Low blood sugar levels
• Enlarged liver and spleen
• Growth failure
• Frequent infections
• Delayed puberty
• Thin arms and legs
• Swollen abdomen
• Easy bruising and bleeding

Some people with GSD1A may also experience seizures, respiratory problems, and liver failure.

Diagnosis of GSD1A

GSD1A is typically diagnosed through a combination of physical exams, blood tests, and genetic testing. Blood tests can detect low blood sugar levels and high levels of lactic acid, which are common in people with this condition. Genetic testing can confirm the presence of mutations in the G6PC gene.

NGS Genetic DNA Test for GSD1A

The most accurate way to diagnose GSD1A is through Next Generation Sequencing (NGS) Genetic DNA testing. This test examines the entire G6PC gene and can identify all known mutations associated with GSD1A. This test is highly accurate and can detect mutations even if they are present in only a small number of cells. The cost of this test is typically around INR 20000.

Conclusion

Glycogen storage disease type 1A is a rare genetic disorder that can cause a range of symptoms and complications. While there is no cure for this condition, early diagnosis and treatment can help manage symptoms and improve quality of life. NGS Genetic DNA testing is the most accurate way to diagnose GSD1A, and can be performed for a cost of INR 20000. If you or a loved one are experiencing symptoms of GSD1A, speak with a genetic counselor or healthcare provider about genetic testing 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 G6PC Gene Glycogen storage disease type 1A NGS Genetic DNA Test