Short Description

NGS genetic DNA test detecets for variant and mutation detection in PCK2 gene for Phosphoenolpyruvate carboxykinase deficiency, mitochondrial

PreTest 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

Detail Description

PCK2 Gene Phosphoenolpyruvate Carboxykinase Deficiency: Symptoms, Diagnosis, and Mitochondrial NGS Genetic DNA Test Cost

Phosphoenolpyruvate carboxykinase (PEPCK) is an enzyme that plays a crucial role in the regulation of glucose metabolism. The PCK2 gene provides instructions for making the mitochondrial form of PEPCK. PCK2 Gene Phosphoenolpyruvate Carboxykinase Deficiency is a rare genetic disorder that affects the function of this enzyme. This condition can lead to a wide range of symptoms and health problems, including metabolic disturbances, hypoglycemia, and neurological disorders.

Symptoms of PCK2 Gene Phosphoenolpyruvate Carboxykinase Deficiency

People with PCK2 Gene Phosphoenolpyruvate Carboxykinase Deficiency may experience a variety of symptoms, including:

• Low blood sugar (hypoglycemia)
• Metabolic disturbances
• Developmental delays
• Seizures
• Cardiac abnormalities
• Abnormal muscle tone
• Intellectual disability
• Short stature
• Neurological disorders

Diagnosis of PCK2 Gene Phosphoenolpyruvate Carboxykinase Deficiency

PCK2 Gene Phosphoenolpyruvate Carboxykinase Deficiency is diagnosed using a variety of tests, including:

• Genetic testing: This involves analyzing a person's DNA to look for mutations in the PCK2 gene.
• Blood tests: These can help identify metabolic disturbances and other health problems associated with PCK2 Gene Phosphoenolpyruvate Carboxykinase Deficiency.
• Imaging tests: These can be used to identify cardiac abnormalities and other physical abnormalities associated with the condition.

Mitochondrial NGS Genetic DNA Test Cost

The cost of a Mitochondrial NGS Genetic DNA Test for PCK2 Gene Phosphoenolpyruvate Carboxykinase Deficiency in India is approximately INR 20,000. This test is a comprehensive genetic test that can identify mutations in the PCK2 gene and other genes associated with mitochondrial dysfunction.

Conclusion

PCK2 Gene Phosphoenolpyruvate Carboxykinase Deficiency is a rare genetic disorder that can lead to a wide range of health problems. If you or a loved one is experiencing symptoms associated with this condition, it is important to seek medical attention and undergo genetic testing to receive an accurate diagnosis. The Mitochondrial NGS Genetic DNA Test is a comprehensive genetic test that can identify mutations in the PCK2 gene and other genes associated with mitochondrial dysfunction. Contact DNA Labs India to learn more about genetic testing for PCK2 Gene Phosphoenolpyruvate Carboxykinase Deficiency.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for PCK2 Gene Phosphoenolpyruvate carboxykinase deficiency, mitochondrial NGS Genetic DNA Test