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PHKB Gene Glycogen Storage Disease Type 9B Genetic Test Cost

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

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The PHKB gene is associated with a condition known as Glycogen Storage Disease Type 9B (GSD 9B), a metabolic disorder that affects the body’s ability to store and utilize glycogen, a form of sugar used for energy. GSD 9B is a rare genetic condition that can lead to various symptoms, including muscle weakness, growth delay, and liver enlargement. The condition is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected.

To diagnose GSD 9B, a genetic test focusing on the PHKB gene can be performed. This test identifies mutations in the PHKB gene that are responsible for the condition. DNA Labs UAE offers this specific genetic testing service, providing a crucial diagnostic tool for families suspecting GSD 9B or for those with a known family history of the condition.

The cost of the PHKB Gene Glycogen Storage Disease Type 9B Genetic Test at DNA Labs UAE is 4400 AED. The test involves collecting a DNA sample, typically through a blood draw or a cheek swab, which is then analyzed in the laboratory for the presence of specific genetic mutations in the PHKB gene. Results from this test can help guide treatment decisions, inform family planning, and provide valuable information on the prognosis of the condition.

It’s important for individuals considering this test to consult with a healthcare provider or a genetic counselor to understand the implications of the results and to receive personalized advice based on their specific situation.

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PHKB Gene Glycogen Storage Disease Type 9B Genetic Test

Test Name: PHKB Gene Glycogen Storage Disease Type 9B Genetic Test

Components: NGS Technology

Price: 4400.0 AED

Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card

Report Delivery: 3 to 4 Weeks

Test Type: Metabolic Disorders

Doctor: General Physician

Test Department: Genetics

Pre Test Information: Clinical History of Patient who is going for PHKB Gene Glycogen Storage Disease Type 9B NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with Glycogen Storage Disease Type 9B.

Test Details

The PHKB gene is associated with glycogen storage disease type 9B (GSD9B). GSD9B is a rare genetic disorder characterized by an inability to break down glycogen, leading to the accumulation of glycogen in various tissues, particularly in the liver and muscles.

NGS (Next-Generation Sequencing) genetic testing is a technique used to analyze multiple genes simultaneously and detect genetic variations or mutations that may be associated with a particular condition, such as GSD9B. This type of testing can provide a comprehensive analysis of the PHKB gene and other relevant genes involved in glycogen metabolism.

NGS genetic testing for GSD9B typically involves obtaining a DNA sample, usually through a blood sample or cheek swab, and sequencing the relevant genes. The obtained genetic data is then analyzed to identify any variations or mutations that may be causative or associated with GSD9B.

This type of genetic testing can help diagnose GSD9B in individuals with symptoms suggestive of the condition, confirm a suspected diagnosis, or identify carriers of the condition in families with a history of GSD9B. It can also provide valuable information for genetic counseling and family planning.

It is important to consult with a healthcare professional or a genetic counselor to discuss the appropriateness and availability of NGS genetic testing for GSD9B in individual cases.

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

The PHKB gene is associated with glycogen storage disease type 9B (GSD9B). GSD9B is a rare genetic disorder characterized by an inability to break down glycogen, leading to the accumulation of glycogen in various tissues, particularly in the liver and muscles.

NGS (Next-Generation Sequencing) genetic testing is a technique used to analyze multiple genes simultaneously and detect genetic variations or mutations that may be associated with a particular condition, such as GSD9B. This type of testing can provide a comprehensive analysis of the PHKB gene and other relevant genes involved in glycogen metabolism.

NGS genetic testing for GSD9B typically involves obtaining a DNA sample, usually through a blood sample or cheek swab, and sequencing the relevant genes. The obtained genetic data is then analyzed to identify any variations or mutations that may be causative or associated with GSD9B.

This type of genetic testing can help diagnose GSD9B in individuals with symptoms suggestive of the condition, confirm a suspected diagnosis, or identify carriers of the condition in families with a history of GSD9B. It can also provide valuable information for genetic counseling and family planning.

It is important to consult with a healthcare professional or a genetic counselor to discuss the appropriateness and availability of NGS genetic testing for GSD9B in individual cases.

SKU: TEST-2370 Category:

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