Short Description

NGS genetic DNA test detecets for variant and mutation detection in PCK1 gene for Phosphoenolpyruvate carboxykinase deficiency, cytosolic

PreTest 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

Detail Description

PCK1 Gene Phosphoenolpyruvate Carboxykinase Deficiency: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

DNA Labs India offers a comprehensive genetic DNA test for PCK1 gene Phosphoenolpyruvate Carboxykinase Deficiency. This rare genetic disorder affects the body's ability to produce glucose, leading to symptoms like hypoglycemia and lactic acidosis. In this blog, we will discuss the symptoms, diagnosis, and cost of the NGS genetic DNA test for PCK1 gene Phosphoenolpyruvate Carboxykinase Deficiency.

Symptoms of PCK1 Gene Phosphoenolpyruvate Carboxykinase Deficiency

The symptoms of PCK1 gene Phosphoenolpyruvate Carboxykinase Deficiency may vary depending on the severity of the condition. However, some common symptoms of this genetic disorder include:

• Hypoglycemia (low blood sugar)
• Lactic acidosis
• Weakness and fatigue
• Irritability and confusion
• Seizures
• Developmental delay
• Low blood pressure
• Jaundice

If you or your child experience any of these symptoms, it is important to consult a doctor immediately. Early diagnosis and treatment can help manage the symptoms and improve the quality of life.

Diagnosis of PCK1 Gene Phosphoenolpyruvate Carboxykinase Deficiency

The diagnosis of PCK1 gene Phosphoenolpyruvate Carboxykinase Deficiency involves genetic testing. The NGS genetic DNA test offered by DNA Labs India is a comprehensive test that analyzes the entire coding region of the PCK1 gene to identify any mutations or abnormalities.

The genetic test involves taking a small blood sample from the patient and sending it to the laboratory for analysis. The results of the test can help confirm the diagnosis of PCK1 gene Phosphoenolpyruvate Carboxykinase Deficiency and guide the treatment plan.

NGS Genetic DNA Test Cost for PCK1 Gene Phosphoenolpyruvate Carboxykinase Deficiency

The cost of the NGS genetic DNA test for PCK1 gene Phosphoenolpyruvate Carboxykinase Deficiency at DNA Labs India is INR 20,000. This includes the cost of the test kit, sample collection, analysis, and interpretation of the results.

At DNA Labs India, we understand the importance of timely and accurate diagnosis of genetic disorders. Our NGS genetic DNA test for PCK1 gene Phosphoenolpyruvate Carboxykinase Deficiency is a comprehensive and reliable test that can help diagnose this rare genetic disorder.

Conclusion

PCK1 gene Phosphoenolpyruvate Carboxykinase Deficiency is a rare genetic disorder that can cause hypoglycemia, lactic acidosis, and other symptoms. Early diagnosis and treatment can help manage the symptoms and improve the quality of life. The NGS genetic DNA test offered by DNA Labs India is a comprehensive test that can help diagnose PCK1 gene Phosphoenolpyruvate Carboxykinase Deficiency. The cost of the test is INR 20,000, which includes the cost of the test kit, sample collection, analysis, and interpretation of the results. If you or your child experience any of the symptoms of this genetic disorder, it is important to consult a doctor and consider genetic testing.

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 PCK1 Gene Phosphoenolpyruvate carboxykinase deficiency, cytosolic NGS Genetic DNA Test