Short Description

NGS genetic DNA test detecets for variant and mutation detection in G6PC gene for Von-Gierke disease

PreTest Information

Clinical History of Patient who is going for G6PC Gene Von-Gierke disease NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Von-Gierke disease

Detail Description

G6PC Gene Von-Gierke Disease NGS Genetic DNA Test

Von-Gierke Disease is a rare genetic disorder that affects the body's ability to metabolize glycogen, a form of glucose that is stored in the liver and muscles. The disease is caused by a mutation in the G6PC gene, which codes for an enzyme called glucose-6-phosphatase. This enzyme is responsible for breaking down glycogen into glucose, which can be used by the body for energy.

People with Von-Gierke Disease are unable to produce enough glucose, which leads to a buildup of glycogen in the liver and other organs. This can cause a range of symptoms, including:

• Low blood sugar
• Enlarged liver and spleen
• Growth delays
• Delayed puberty
• Low muscle tone
• High blood pressure
• Kidney damage

The disease is usually diagnosed in infancy or early childhood, and can be detected through a blood test that measures levels of glucose and glycogen in the blood. However, genetic testing can provide a more definitive diagnosis, and can also help identify carriers of the disease.

NGS Genetic DNA Test for G6PC Gene Von-Gierke Disease

NGS (Next Generation Sequencing) is a cutting-edge technology that allows for the rapid and accurate sequencing of DNA. This technology can be used to screen for mutations in the G6PC gene that are associated with Von-Gierke Disease.

The NGS Genetic DNA Test for G6PC Gene Von-Gierke Disease is a non-invasive test that requires only a blood or saliva sample. The sample is sent to a laboratory, where it is analyzed using NGS technology. The results of the test can usually be obtained within a few weeks.

Cost of the NGS Genetic DNA Test for G6PC Gene Von-Gierke Disease

The cost of the NGS Genetic DNA Test for G6PC Gene Von-Gierke Disease varies depending on the laboratory that performs the test. In India, the test typically costs around INR 20,000.

Advantages of the NGS Genetic DNA Test for G6PC Gene Von-Gierke Disease

• The test is highly accurate and can detect even small mutations in the G6PC gene.
• The test is non-invasive and requires only a blood or saliva sample.
• The test can provide a definitive diagnosis of Von-Gierke Disease, allowing for early intervention and treatment.
• The test can also identify carriers of the disease, allowing for genetic counseling and family planning.

Conclusion

The NGS Genetic DNA Test for G6PC Gene Von-Gierke Disease is a valuable tool for the diagnosis and management of this rare genetic disorder. With its high accuracy, non-invasive nature, and ability to provide a definitive diagnosis, this test can help ensure that people with Von-Gierke Disease receive the care and support they need.

If you suspect that you or a loved one may have Von-Gierke Disease, it is important to speak with a healthcare provider. They can help you determine if genetic testing is appropriate, and can provide guidance on next steps.