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PYGM Gene Glycogen storage disease type 5 Genetic Test Cost

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

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The PYGM gene glycogen storage disease type 5, also known as McArdle’s disease, is a rare genetic disorder that affects muscle function. This condition is caused by mutations in the PYGM gene, which is responsible for producing myophosphorylase, an enzyme essential for breaking down glycogen in muscle cells. Without sufficient levels of this enzyme, individuals with McArdle’s disease experience muscle weakness, cramps, and fatigue, particularly during exercise.

To diagnose this condition, a genetic test can be conducted to identify mutations in the PYGM gene. DNA Labs UAE offers this specific genetic test, providing a comprehensive analysis to detect the presence of the mutations associated with glycogen storage disease type 5. The test is priced at 4400 AED and involves collecting a DNA sample from the patient, typically through a blood draw or cheek swab. The sample is then analyzed in the laboratory to determine if the PYGM gene mutations are present, aiding in the diagnosis of McArdle’s disease.

This genetic test is crucial for individuals experiencing symptoms of McArdle’s disease or those with a family history of the condition, as it provides definitive diagnosis and can guide treatment and management strategies. Early diagnosis can also help in preventing potential complications and improving the quality of life for those affected by this rare genetic disorder.

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PYGM Gene Glycogen Storage Disease Type 5 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 PYGM Gene Glycogen storage disease type 5 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with Glycogen storage disease type 5.

Test Details

The PYGM gene is responsible for producing an enzyme called muscle glycogen phosphorylase, which is involved in breaking down glycogen (a stored form of glucose) into glucose for energy production in muscle cells. Mutations in the PYGM gene can lead to a condition called glycogen storage disease type 5, also known as McArdle disease.

Glycogen storage disease type 5 is an inherited metabolic disorder characterized by the inability to break down glycogen in muscle cells. This results in muscle weakness, fatigue, and cramping during exercise. Other symptoms may include myoglobinuria (the presence of myoglobin, a protein released from damaged muscle cells, in the urine), muscle stiffness, and exercise intolerance.

NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that uses high-throughput sequencing technologies to analyze multiple genes simultaneously. In the context of glycogen storage disease type 5, NGS genetic testing can be used to identify mutations in the PYGM gene that may be responsible for the condition.

By identifying the specific mutations in the PYGM gene, NGS genetic testing can help confirm a diagnosis of glycogen storage disease type 5 and provide information about the specific genetic variant present. This information can be useful for genetic counseling, as well as for guiding treatment and management strategies for individuals with the condition.

Test Name PYGM Gene Glycogen storage disease type 5 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 PYGM Gene Glycogen storage disease type 5 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Glycogen storage disease type 5
Test Details

The PYGM gene is responsible for producing an enzyme called muscle glycogen phosphorylase, which is involved in breaking down glycogen (a stored form of glucose) into glucose for energy production in muscle cells. Mutations in the PYGM gene can lead to a condition called glycogen storage disease type 5, also known as McArdle disease.

Glycogen storage disease type 5 is an inherited metabolic disorder characterized by the inability to break down glycogen in muscle cells. This results in muscle weakness, fatigue, and cramping during exercise. Other symptoms may include myoglobinuria (the presence of myoglobin, a protein released from damaged muscle cells, in the urine), muscle stiffness, and exercise intolerance.

NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that uses high-throughput sequencing technologies to analyze multiple genes simultaneously. In the context of glycogen storage disease type 5, NGS genetic testing can be used to identify mutations in the PYGM gene that may be responsible for the condition.

By identifying the specific mutations in the PYGM gene, NGS genetic testing can help confirm a diagnosis of glycogen storage disease type 5 and provide information about the specific genetic variant present. This information can be useful for genetic counseling, as well as for guiding treatment and management strategies for individuals with the condition.

SKU: TEST-2366 Category:

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