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PHKA2 Gene Glycogen storage disease type 9A Genetic Test Cost

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

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The PHKA2 gene is crucial for the proper functioning of the body’s energy storage system, particularly in managing glycogen, a key energy reserve. Mutations in this gene can lead to Glycogen Storage Disease Type 9A (GSD9A), a condition characterized by an inability to break down glycogen, leading to its excessive accumulation in certain organs, primarily the liver. This can result in a range of symptoms including growth retardation, liver enlargement, and hypoglycemia.

To diagnose this condition accurately, genetic testing is essential. In the UAE, DNA Labs offers a specific genetic test aimed at identifying mutations in the PHKA2 gene that are responsible for GSD9A. This test is pivotal for confirming the diagnosis, allowing for appropriate management and treatment plans to be established for affected individuals.

The cost of the PHKA2 gene glycogen storage disease type 9A genetic test at DNA Labs UAE is 4400 AED. This test is a crucial step in ensuring accurate diagnosis and facilitating the best possible care for individuals with this condition. By pinpointing the genetic underpinnings of GSD9A, families can also gain valuable insights into inheritance patterns and potential risks for future children, guiding informed decisions about family planning.

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PHKA2 Gene Glycogen Storage Disease Type 9A Genetic Test

Test Name:

PHKA2 Gene Glycogen storage disease type 9A 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 PHKA2 Gene Glycogen storage disease type 9A NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with Glycogen storage disease type 9A.

Test Details:

The PHKA2 gene is responsible for producing a protein called phosphorylase kinase alpha 2 subunit, which plays a crucial role in the breakdown of glycogen into glucose in the body. Mutations in the PHKA2 gene can lead to a rare genetic disorder called glycogen storage disease type 9A (GSD9A). GSD9A is an autosomal recessive disorder, meaning that individuals need to inherit two copies of the mutated PHKA2 gene (one from each parent) to develop the disease. This condition affects the liver and muscles, impairing the ability to break down glycogen into glucose. As a result, affected individuals may experience symptoms such as muscle weakness, fatigue, low blood sugar levels, and an enlarged liver.

NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously, including the PHKA2 gene, to identify mutations or variants that may be associated with GSD9A. This type of testing can help diagnose the condition and provide information about the specific genetic changes involved.

If you suspect that you or someone you know may have GSD9A, it is recommended to consult with a healthcare professional or a genetic counselor who can guide you through the testing process and provide appropriate medical advice and support.

Test Name PHKA2 Gene Glycogen storage disease type 9A 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 PHKA2 Gene Glycogen storage disease type 9A NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Glycogen storage disease type 9A
Test Details

The PHKA2 gene is responsible for producing a protein called phosphorylase kinase alpha 2 subunit, which plays a crucial role in the breakdown of glycogen into glucose in the body. Mutations in the PHKA2 gene can lead to a rare genetic disorder called glycogen storage disease type 9A (GSD9A).

GSD9A is an autosomal recessive disorder, meaning that individuals need to inherit two copies of the mutated PHKA2 gene (one from each parent) to develop the disease. This condition affects the liver and muscles, impairing the ability to break down glycogen into glucose. As a result, affected individuals may experience symptoms such as muscle weakness, fatigue, low blood sugar levels, and an enlarged liver.

NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously, including the PHKA2 gene, to identify mutations or variants that may be associated with GSD9A. This type of testing can help diagnose the condition and provide information about the specific genetic changes involved.

If you suspect that you or someone you know may have GSD9A, it is recommended to consult with a healthcare professional or a genetic counselor who can guide you through the testing process and provide appropriate medical advice and support.

SKU: TEST-2369 Category:

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