PCK1 Gene Phosphoenolpyruvate carboxykinase deficiency cytosolic Genetic Test
Welcome to DNA Labs UAE, where we offer the PCK1 Gene Phosphoenolpyruvate carboxykinase deficiency cytosolic Genetic Test. This test is designed to diagnose individuals with PCK1 deficiency, a rare genetic disorder characterized by a lack or malfunction of the enzyme Phosphoenolpyruvate carboxykinase (PCK1).
Test Details
The PCK1 enzyme is crucial in the process of gluconeogenesis, which is the synthesis of glucose from non-carbohydrate precursors. Our NGS (Next-Generation Sequencing) Genetic Test utilizes high-throughput sequencing technologies to analyze multiple genes simultaneously. In the case of PCK1 deficiency, this test can identify any genetic variations or mutations in the PCK1 gene that may be responsible for the deficiency.
Test Components and Price
The cost of the PCK1 Gene Phosphoenolpyruvate carboxykinase deficiency cytosolic Genetic Test is AED 4400.0. The test requires a sample of either blood, extracted DNA, or one drop of blood on an FTA Card.
Report Delivery
After the sample is collected, the report will be delivered within 3 to 4 weeks.
Method
We utilize NGS technology for this genetic test, which provides accurate and comprehensive sequencing data.
Test Type
The PCK1 Gene Phosphoenolpyruvate carboxykinase deficiency cytosolic Genetic Test falls under the category of Metabolic Disorders.
Doctor and Test Department
This test can be ordered by a General Physician and is conducted in our Genetics department.
Pre Test Information
Prior to the test, it is important to provide the clinical history of the patient who is going for the PCK1 Gene Phosphoenolpyruvate carboxykinase deficiency cytosolic NGS Genetic DNA Test. Additionally, a Genetic Counselling session will be conducted to draw a pedigree chart of family members affected with Phosphoenolpyruvate carboxykinase deficiency, cytosolic.
Understanding the Results
The results of the NGS genetic test will help diagnose PCK1 deficiency by confirming the presence of genetic variations or mutations in the PCK1 gene. This information is crucial in understanding the underlying cause of the deficiency and may guide treatment decisions or genetic counseling for affected individuals and their families.
| Test Name | PCK1 Gene Phosphoenolpyruvate carboxykinase deficiency cytosolic 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 PCK1 Gene Phosphoenolpyruvate carboxykinase deficiency, cytosolic NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Phosphoenolpyruvate carboxykinase deficiency, cytosolic |
| Test Details |
Phosphoenolpyruvate carboxykinase (PCK1) is an enzyme that plays a crucial role in gluconeogenesis, the process by which glucose is synthesized from non-carbohydrate precursors. PCK1 deficiency is a rare genetic disorder characterized by a lack or malfunction of this enzyme. NGS (Next-Generation Sequencing) Genetic Test refers to a type of genetic testing that utilizes high-throughput sequencing technologies to analyze multiple genes simultaneously. In the context of PCK1 deficiency, an NGS genetic test can be performed to identify any genetic variations or mutations in the PCK1 gene that may be responsible for the deficiency. This genetic test involves obtaining a DNA sample, typically through a blood or saliva sample, from the individual being tested. The DNA is then sequenced using NGS technology, which generates large amounts of sequencing data. Bioinformatics analysis is then performed to identify any genetic variations or mutations in the PCK1 gene. The results of the NGS genetic test can help diagnose PCK1 deficiency by confirming the presence of genetic variations or mutations in the PCK1 gene. This information can be useful in understanding the underlying cause of the deficiency and may guide treatment decisions or genetic counseling for affected individuals and their families. |
