Short Description

NGS genetic DNA test detecets for variant and mutation detection in PC gene for Pyruvate carboxylase deficiency

PreTest Information

Clinical History of Patient who is going for PC Gene Pyruvate carboxylase deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with PC Gene Pyruvate carboxylase deficiency

Detail Description

PC Gene Pyruvate carboxylase deficiency NGS Genetic DNA Test cost INR:20000 symptoms diagnosis

Pyruvate carboxylase deficiency is a rare genetic disorder that affects the body's ability to produce energy from food. The condition is caused by mutations in the PC gene, which provides instructions for making an enzyme called pyruvate carboxylase. This enzyme is essential for several metabolic pathways, including gluconeogenesis, lipogenesis, and neurotransmitter synthesis.

Symptoms of Pyruvate carboxylase deficiency

The symptoms of pyruvate carboxylase deficiency can vary widely depending on the severity of the condition and the age of onset. In many cases, symptoms become apparent in infancy or early childhood and may include:

• Developmental delay
• Low muscle tone (hypotonia)
• Poor feeding and failure to thrive
• Seizures
• Abnormal movements
• Intellectual disability

Diagnosis of Pyruvate carboxylase deficiency

Diagnosis of pyruvate carboxylase deficiency typically involves a combination of clinical evaluation, laboratory testing, and genetic testing. Laboratory tests may include blood tests to measure levels of pyruvate and lactate, as well as imaging studies such as MRI or CT scans. Genetic testing can confirm the diagnosis and identify the specific PC gene mutation responsible for the condition.

NGS Genetic DNA Test for Pyruvate carboxylase deficiency

NGS (Next-Generation Sequencing) Genetic DNA testing is a powerful tool for identifying genetic mutations associated with pyruvate carboxylase deficiency. This type of testing can analyze multiple genes simultaneously, allowing for a more comprehensive evaluation of a patient's genetic profile. The cost of NGS Genetic DNA testing for pyruvate carboxylase deficiency in India is typically around INR 20,000.

Conclusion

Pyruvate carboxylase deficiency is a rare genetic disorder that can have a significant impact on a patient's health and quality of life. Early diagnosis and treatment are essential for managing the symptoms of the condition and preventing complications. NGS Genetic DNA testing can provide valuable information about a patient's genetic profile and help healthcare providers make informed treatment decisions. If you or a loved one are experiencing symptoms of pyruvate carboxylase deficiency, talk to your healthcare provider about the possibility of genetic testing.

For more information about NGS Genetic DNA testing for pyruvate carboxylase deficiency, contact DNA Labs India today.

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 PC Gene Pyruvate carboxylase deficiency NGS Genetic DNA Test