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PHKG2 Gene Glycogen Storage Disease Type 9C Genetic Test

Original price was: 5,600 د.إ.Current price is: 4,400 د.إ.

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The PHKG2 gene plays a crucial role in the body’s glycogen metabolism, a process essential for storing and mobilizing energy. Mutations in the PHKG2 gene can lead to Glycogen Storage Disease Type 9C (GSD9C), a rare genetic disorder characterized by an inability to properly break down glycogen, leading to its accumulation in various tissues, particularly the liver. This can result in symptoms such as hepatomegaly (enlarged liver), hypoglycemia (low blood sugar), and growth retardation among affected individuals.

To diagnose GSD9C, genetic testing is essential. DNA Labs UAE offers a specialized genetic test targeting the PHKG2 gene to confirm the diagnosis of Glycogen Storage Disease Type 9C. This test involves analyzing the patient’s DNA to identify mutations in the PHKG2 gene that are indicative of GSD9C. It is a crucial step for affected families, as it can help in managing the condition through dietary interventions and monitoring, improving the quality of life for those affected.

The cost of the PHKG2 Gene Glycogen Storage Disease Type 9C Genetic Test at DNA Labs UAE is 4400 AED. This investment covers the comprehensive analysis required to accurately diagnose this condition, enabling targeted management strategies and potentially reducing the risk of complications associated with GSD9C.

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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.

SKU: TEST-2371 Category:

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