PGK1 Gene Phosphoglycerate kinase 1 deficiency Genetic Test
Components: PGK1 Gene Phosphoglycerate kinase 1 deficiency Genetic Test
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: Neurological Disorders
Doctor: Neurologist
Test Department: Genetics
Pre Test Information: Clinical History of Patient who is going for PGK1 Gene Phosphoglycerate kinase 1 deficiency NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PGK1 Gene Phosphoglycerate kinase 1 deficiency.
Test Details
PGK1 gene, also known as Phosphoglycerate kinase 1, is responsible for producing an enzyme called phosphoglycerate kinase. This enzyme plays a crucial role in the glycolytic pathway, which is the process by which cells break down glucose to produce energy.
Phosphoglycerate kinase 1 deficiency is a rare genetic disorder that affects the function of this enzyme. It is inherited in an X-linked recessive manner, meaning that it primarily affects males. Females who carry the mutated gene are usually unaffected or may have mild symptoms.
Individuals with PGK1 deficiency may experience a wide range of symptoms, including muscle weakness, fatigue, exercise intolerance, and muscle pain. In severe cases, it can lead to myopathy, a condition characterized by muscle wasting and weakness.
To diagnose PGK1 deficiency, a Next-Generation Sequencing (NGS) genetic test may be performed. NGS is a high-throughput method that allows for the simultaneous analysis of multiple genes, including the PGK1 gene. This test can identify mutations or variants in the gene that may be responsible for the deficiency.
The NGS genetic test involves obtaining a DNA sample, usually through a blood sample or saliva swab. The DNA is then sequenced, and the resulting data is analyzed for any genetic variants or mutations in the PGK1 gene.
The test results can help confirm a diagnosis of PGK1 deficiency and provide valuable information for genetic counseling and family planning. Additionally, it can aid in the management and treatment of the condition by guiding healthcare professionals in developing personalized treatment plans.
It’s important to note that genetic testing should always be done under the guidance of a healthcare professional or genetic counselor, who can provide appropriate counseling and support throughout the process.
| Test Name | PGK1 Gene Phosphoglycerate kinase 1 deficiency Genetic Test |
|---|---|
| Components | |
| Price | 4400.0 AED |
| Sample Condition | Blood or Extracted DNA or One drop Blood on FTA Card o |
| Report Delivery | 3 to 4 Weeks |
| Method | NGS Technology |
| Test type | Neurological Disorders |
| Doctor | Neurologist |
| Test Department: | Genetics |
| Pre Test Information | Clinical History of Patient who is going for PGK1 Gene Phosphoglycerate kinase 1 deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with PGK1 Gene Phosphoglycerate kinase 1 deficiency |
| Test Details |
PGK1 gene, also known as Phosphoglycerate kinase 1, is responsible for producing an enzyme called phosphoglycerate kinase. This enzyme plays a crucial role in the glycolytic pathway, which is the process by which cells break down glucose to produce energy. Phosphoglycerate kinase 1 deficiency is a rare genetic disorder that affects the function of this enzyme. It is inherited in an X-linked recessive manner, meaning that it primarily affects males. Females who carry the mutated gene are usually unaffected or may have mild symptoms. Individuals with PGK1 deficiency may experience a wide range of symptoms, including muscle weakness, fatigue, exercise intolerance, and muscle pain. In severe cases, it can lead to myopathy, a condition characterized by muscle wasting and weakness. To diagnose PGK1 deficiency, a Next-Generation Sequencing (NGS) genetic test may be performed. NGS is a high-throughput method that allows for the simultaneous analysis of multiple genes, including the PGK1 gene. This test can identify mutations or variants in the gene that may be responsible for the deficiency. The NGS genetic test involves obtaining a DNA sample, usually through a blood sample or saliva swab. The DNA is then sequenced, and the resulting data is analyzed for any genetic variants or mutations in the PGK1 gene. The test results can help confirm a diagnosis of PGK1 deficiency and provide valuable information for genetic counseling and family planning. Additionally, it can aid in the management and treatment of the condition by guiding healthcare professionals in developing personalized treatment plans. It’s important to note that genetic testing should always be done under the guidance of a healthcare professional or genetic counselor, who can provide appropriate counseling and support throughout the process. |
