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PYGL Gene Glycogen storage disease type 6B Genetic Test Cost

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

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Glycogen storage disease type 6B, caused by mutations in the PYGL gene, is a genetic disorder that affects the body’s ability to break down glycogen, a stored form of glucose. This can lead to various symptoms, including low blood sugar levels, muscle weakness, and growth abnormalities. The PYGL gene plays a crucial role in the glycogenolysis pathway, and mutations in this gene disrupt the normal breakdown of glycogen, leading to its accumulation in the liver and muscles.

To diagnose this condition, a genetic test targeting the PYGL gene can be performed. DNA Labs UAE offers this specific genetic testing service to identify mutations in the PYGL gene, providing crucial information for the diagnosis, management, and understanding of glycogen storage disease type 6B. The test is priced at 4400 AED and involves collecting a DNA sample from the patient, usually through a blood draw or cheek swab, which is then analyzed in the laboratory to detect any genetic abnormalities associated with the condition.

This genetic test is a valuable tool for families with a history of glycogen storage disease type 6B, individuals exhibiting symptoms of the disorder, or those who carry a risk of passing the condition to their offspring. By confirming the presence of mutations in the PYGL gene, healthcare providers can offer appropriate genetic counseling, devise a tailored management plan to mitigate symptoms, and inform patients about the implications for family planning.

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PYGL Gene Glycogen storage disease type 6B Genetic Test

Introduction

The PYGL gene is responsible for producing an enzyme called liver glycogen phosphorylase. Mutations in this gene can cause a glycogen storage disease known as type 6B (GSD6B), also called phosphorylase kinase deficiency. GSD6B is an inherited disorder that affects the way the body stores and uses glycogen, which is a form of stored glucose. This condition leads to a buildup of glycogen in the liver and muscles, causing symptoms such as low blood sugar (hypoglycemia), muscle weakness, fatigue, and enlarged liver.

About the Test

The PYGL Gene Glycogen storage disease type 6B Genetic Test offered by DNA Labs UAE is a type of genetic test that uses Next-Generation Sequencing (NGS) technology. This test can analyze multiple genes simultaneously, including the PYGL gene, to identify any mutations or variations that may be associated with GSD6B. The test is conducted in the Genetics department of DNA Labs UAE.

Test Components and Price

The test costs 4400.0 AED. The sample condition required for the test can be either blood, extracted DNA, or one drop of blood on an FTA card.

Report Delivery

The test results are typically delivered within 3 to 4 weeks.

Test Type and Doctor

The PYGL Gene Glycogen storage disease type 6B Genetic Test falls under the category of Metabolic Disorders. The test is recommended by General Physicians.

Pre Test Information

Before undergoing the PYGL Gene Glycogen storage disease type 6B NGS Genetic DNA Test, it is important to provide the clinical history of the patient. Additionally, a Genetic Counselling session is conducted to draw a pedigree chart of family members affected by Glycogen storage disease type 6B.

Benefits of the Test

Genetic testing for GSD6B can be beneficial for individuals who have symptoms suggestive of the condition, as well as for family members of affected individuals who may be at risk of inheriting the condition. It can also help with family planning decisions and provide information for managing and treating the condition.

Consultation

It is important to consult with a healthcare professional or a genetic counselor to discuss the appropriateness and implications of genetic testing for GSD6B.

Test Name PYGL Gene Glycogen storage disease type 6B 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 PYGL Gene Glycogen storage disease type 6B NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Glycogen storage disease type 6B
Test Details

The PYGL gene is responsible for producing an enzyme called liver glycogen phosphorylase. Mutations in this gene can cause a glycogen storage disease known as type 6B (GSD6B), also called phosphorylase kinase deficiency.

GSD6B is an inherited disorder that affects the way the body stores and uses glycogen, which is a form of stored glucose. This condition leads to a buildup of glycogen in the liver and muscles, causing symptoms such as low blood sugar (hypoglycemia), muscle weakness, fatigue, and enlarged liver.

NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that can analyze multiple genes simultaneously, including the PYGL gene, to identify any mutations or variations that may be associated with GSD6B. This test can help diagnose the condition and provide information about the specific genetic changes present in an individual.

Genetic testing for GSD6B can be beneficial for individuals who have symptoms suggestive of the condition, as well as for family members of affected individuals who may be at risk of inheriting the condition. It can also help with family planning decisions and provide information for managing and treating the condition.

It is important to consult with a healthcare professional or a genetic counselor to discuss the appropriateness and implications of genetic testing for GSD6B.

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