PHKG2 Gene Glycogen Storage Disease Type 9C Genetic Test
Test Name: PHKG2 Gene Glycogen storage disease type 9C Genetic Test
Components: Blood or Extracted DNA or One drop Blood on FTA Card
Price: 4400.0 AED
Report Delivery: 3 to 4 Weeks
Method: NGS Technology
Test Type: Metabolic Disorders
Doctor: General Physician
Test Department: Genetics
Pre Test Information: Clinical History of Patient who is going for PHKG2 Gene Glycogen storage disease type 9C NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with Glycogen storage disease type 9C.
Test Details
The PHKG2 gene is associated with Glycogen Storage Disease Type 9C (GSD9C), which is a rare genetic disorder characterized by an inability to properly store and use glycogen in the body. GSD9C is caused by mutations in the PHKG2 gene, which provides instructions for making an enzyme called phosphorylase kinase gamma 2 subunit.
A Next-Generation Sequencing (NGS) genetic test for GSD9C would involve analyzing the PHKG2 gene to identify any mutations or variations that may be present. NGS technology allows for the simultaneous sequencing of multiple genes, providing a comprehensive analysis of the genetic variations that may be contributing to the disease.
By performing an NGS genetic test for GSD9C, healthcare professionals can accurately diagnose the condition, determine the specific genetic mutation causing the disease, and provide appropriate genetic counseling and management strategies for affected individuals and their families.
Test Name | PHKG2 Gene Glycogen storage disease type 9C Genetic Test |
---|---|
Components | |
Price | 4400.0 AED |
Sample Condition | Blood or Extracted DNA or One drop Blood on FTA Card |
Report Delivery | 3 to 4 Weeks |
Method | NGS Technology |
Test type | Metabolic Disorders |
Doctor | General Physician |
Test Department: | Genetics |
Pre Test Information | Clinical History of Patient who is going for PHKG2 Gene Glycogen storage disease type 9C NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Glycogen storage disease type 9C |
Test Details | The PHKG2 gene is associated with Glycogen Storage Disease Type 9C (GSD9C), which is a rare genetic disorder characterized by an inability to properly store and use glycogen in the body. GSD9C is caused by mutations in the PHKG2 gene, which provides instructions for making an enzyme called phosphorylase kinase gamma 2 subunit. A Next-Generation Sequencing (NGS) genetic test for GSD9C would involve analyzing the PHKG2 gene to identify any mutations or variations that may be present. NGS technology allows for the simultaneous sequencing of multiple genes, providing a comprehensive analysis of the genetic variations that may be contributing to the disease. By performing an NGS genetic test for GSD9C, healthcare professionals can accurately diagnose the condition, determine the specific genetic mutation causing the disease, and provide appropriate genetic counseling and management strategies for affected individuals and their families. |