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ENO3 Gene Glycogen storage disease type 13 Genetic Test Cost

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

-21%

The ENO3 gene is responsible for encoding the enzyme beta-enolase, which plays a crucial role in the glycolytic pathway, specifically in the conversion of 2-phosphoglycerate to phosphoenolpyruvate. Mutations in the ENO3 gene can lead to Glycogen Storage Disease Type 13 (GSD XIII), a rare metabolic disorder characterized by muscle weakness, cramps, and exercise intolerance due to the inefficient breakdown of glycogen into glucose. This condition underscores the importance of genetic testing for early diagnosis and management.

DNA Labs UAE offers a specialized genetic test to identify mutations in the ENO3 gene, aiding in the diagnosis of Glycogen Storage Disease Type 13. The test is a crucial step for individuals experiencing symptoms related to muscle metabolism disorders or for those with a family history of GSD XIII. By analyzing the patient’s DNA, the test can confirm the presence of the specific mutations associated with this condition, providing valuable information for medical management and treatment planning.

The cost of the ENO3 Gene Glycogen Storage Disease Type 13 Genetic Test at DNA Labs UAE is 4400 AED. This investment covers the detailed analysis required to detect the genetic variations linked to this rare disease. It’s an essential tool for healthcare providers and patients in the journey towards understanding and managing GSD XIII effectively.

Description

ENO3 Gene Glycogen Storage Disease Type 13 Genetic Test

Test Name: ENO3 Gene Glycogen storage disease type 13 Genetic Test

Components: Blood or Extracted DNA or One drop Blood on FTA Card

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 ENO3 Gene Glycogen storage disease type 13 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with Glycogen storage disease type 13.

Test Details: The ENO3 gene is responsible for encoding the enzyme enolase 3, which plays a crucial role in glycolysis, the metabolic pathway that breaks down glucose to produce energy. Glycogen storage disease type 13 (GSD13) is a rare genetic disorder caused by mutations in the ENO3 gene. GSD13 is characterized by an inability to break down glycogen, a stored form of glucose, leading to the accumulation of glycogen in various tissues, particularly in the liver and muscles. This can result in symptoms such as muscle weakness, exercise intolerance, low blood sugar levels, and liver dysfunction. NGS (Next-Generation Sequencing) genetic testing is a method used to analyze the DNA sequence of an individual’s genes. It can identify mutations or variations in the ENO3 gene that may be responsible for GSD13. NGS technology allows for the simultaneous analysis of multiple genes or the entire exome (all the protein-coding regions of the genome) to provide a comprehensive assessment of genetic variants. Genetic testing for GSD13 can help confirm a diagnosis, identify carriers of the disease, and provide information for genetic counseling and family planning. It can also aid in the management and treatment of affected individuals by guiding personalized therapies and monitoring disease progression. It is important to consult with a healthcare professional or a genetic counselor to discuss the benefits, limitations, and potential risks associated with genetic testing before undergoing any testing procedure.

Test Name	ENO3 Gene Glycogen storage disease type 13 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 ENO3 Gene Glycogen storage disease type 13 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Glycogen storage disease type 13
Test Details	The ENO3 gene is responsible for encoding the enzyme enolase 3, which plays a crucial role in glycolysis, the metabolic pathway that breaks down glucose to produce energy. Glycogen storage disease type 13 (GSD13) is a rare genetic disorder caused by mutations in the ENO3 gene. GSD13 is characterized by an inability to break down glycogen, a stored form of glucose, leading to the accumulation of glycogen in various tissues, particularly in the liver and muscles. This can result in symptoms such as muscle weakness, exercise intolerance, low blood sugar levels, and liver dysfunction. NGS (Next-Generation Sequencing) genetic testing is a method used to analyze the DNA sequence of an individual’s genes. It can identify mutations or variations in the ENO3 gene that may be responsible for GSD13. NGS technology allows for the simultaneous analysis of multiple genes or the entire exome (all the protein-coding regions of the genome) to provide a comprehensive assessment of genetic variants. Genetic testing for GSD13 can help confirm a diagnosis, identify carriers of the disease, and provide information for genetic counseling and family planning. It can also aid in the management and treatment of affected individuals by guiding personalized therapies and monitoring disease progression. It is important to consult with a healthcare professional or a genetic counselor to discuss the benefits, limitations, and potential risks associated with genetic testing before undergoing any testing procedure.