PCK2 Gene Phosphoenolpyruvate Carboxykinase Deficiency Mitochondrial Genetic Test
At DNA Labs UAE, we offer the PCK2 Gene Phosphoenolpyruvate Carboxykinase Deficiency Mitochondrial Genetic Test. This test helps diagnose and identify mutations or variations in the PCK2 gene, which is responsible for encoding the enzyme phosphoenolpyruvate carboxykinase (PEPCK) in the mitochondria.
Test Details
The PCK2 gene plays a crucial role in gluconeogenesis, the process of generating glucose from non-carbohydrate sources. Deficiency in the PCK2 gene can lead to a rare genetic disorder known as phosphoenolpyruvate carboxykinase deficiency, mitochondrial type.
Individuals with PCK2 gene deficiency may experience symptoms such as seizures, developmental delay, muscle weakness, failure to thrive, and liver dysfunction. Low blood sugar levels (hypoglycemia) are also a common characteristic of this condition.
To diagnose PCK2 gene deficiency, we utilize Next-Generation Sequencing (NGS) technology. NGS is a high-throughput DNA sequencing method that allows for the simultaneous analysis of multiple genes. This test is performed using a DNA sample, which can be obtained through a blood sample or cheek swab.
After obtaining the DNA sample, we sequence the DNA and analyze the data to identify any mutations or variations in the PCK2 gene. This information is crucial in confirming a diagnosis of PCK2 gene deficiency and guiding treatment decisions.
Test Components and Price
The PCK2 Gene Phosphoenolpyruvate Carboxykinase Deficiency Mitochondrial Genetic Test is priced at 4400.0 AED. This cost includes the analysis of the DNA sample using NGS technology.
Sample Condition
We accept blood samples, extracted DNA, or one drop of blood on an FTA card for this genetic test.
Report Delivery
The report for the PCK2 Gene Phosphoenolpyruvate Carboxykinase Deficiency Mitochondrial Genetic Test will be delivered within 3 to 4 weeks from the date of sample submission.
Test Type and Doctor
The PCK2 Gene Phosphoenolpyruvate Carboxykinase Deficiency Mitochondrial Genetic Test falls under the category of metabolic disorders. Our dedicated team of General Physicians specializes in conducting this test.
Test Department
The PCK2 Gene Phosphoenolpyruvate Carboxykinase Deficiency Mitochondrial Genetic Test is conducted in our Genetics department. Our experts in genetics ensure accurate and reliable test results.
Pre Test Information
Prior to undergoing the PCK2 Gene Phosphoenolpyruvate Carboxykinase Deficiency Mitochondrial Genetic Test, it is important to provide the clinical history of the patient. This helps in understanding the patient’s condition and aids in the interpretation of the test results. Additionally, a genetic counseling session may be conducted to draw a pedigree chart of family members affected by Phosphoenolpyruvate Carboxykinase Deficiency, mitochondrial type.
Benefits of Genetic Testing
Genetic testing for PCK2 gene deficiency can be highly beneficial for individuals with suspected mitochondrial disorders or unexplained hypoglycemia. It provides a definitive diagnosis, allows for genetic counseling, and helps guide management and treatment strategies.
It is important to note that genetic testing should always be performed and interpreted by qualified healthcare professionals, such as geneticists or genetic counselors. They possess the necessary expertise to provide appropriate counseling and support throughout the testing process.
Test Name | PCK2 Gene Phosphoenolpyruvate carboxykinase deficiency mitochondrial Genetic Test |
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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 PCK2 Gene Phosphoenolpyruvate carboxykinase deficiency, mitochondrial NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Phosphoenolpyruvate carboxykinase deficiency, mitochondrial |
Test Details |
The PCK2 gene is responsible for encoding the enzyme phosphoenolpyruvate carboxykinase (PEPCK) in the mitochondria. PEPCK is involved in a critical step of gluconeogenesis, which is the process of generating glucose from non-carbohydrate sources. Deficiency in the PCK2 gene can lead to a condition known as phosphoenolpyruvate carboxykinase deficiency, mitochondrial type. This is a rare genetic disorder characterized by impaired gluconeogenesis, resulting in low blood sugar levels (hypoglycemia). The symptoms of this condition can vary widely and may include seizures, developmental delay, muscle weakness, failure to thrive, and liver dysfunction. To diagnose PCK2 gene deficiency, a genetic test known as Next-Generation Sequencing (NGS) can be performed. NGS is a high-throughput DNA sequencing method that allows for the simultaneous analysis of multiple genes. It can detect mutations or variations in the PCK2 gene, which may be responsible for the deficiency. NGS genetic testing involves obtaining a DNA sample, usually through a blood sample or cheek swab. The DNA is then sequenced, and the data is analyzed to identify any mutations or variations in the PCK2 gene. This information can help confirm a diagnosis of PCK2 gene deficiency and guide treatment decisions. Genetic testing for PCK2 gene deficiency can be beneficial for individuals with suspected mitochondrial disorders or unexplained hypoglycemia. It can provide a definitive diagnosis, allow for genetic counseling, and help guide management and treatment strategies. It is important to note that genetic testing should be performed and interpreted by qualified healthcare professionals, such as geneticists or genetic counselors, who can provide appropriate counseling and support. |