Test Name	PC Gene Pyruvate carboxylase deficiency NGS Genetic DNA Test
Test type	General Physician
Pre-test 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 Pyruvate carboxylase deficiency
Report Delivery	3 to 4 Weeks
Components
Price	₹ 20000
Method	NGS Technology

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 Pyruvate carboxylase deficiency

Detail Description

PC Gene Pyruvate Carboxylase Deficiency: NGS Genetic DNA Test Cost INR 20,000, Symptoms and Diagnosis

DNA Labs India now offers Next-Generation Sequencing (NGS) Genetic DNA testing for Pyruvate Carboxylase (PC) gene deficiency. Pyruvate Carboxylase is a key enzyme in the metabolism of glucose, and its deficiency can lead to various health problems. This test is available at an affordable cost of INR 20,000 and can provide early diagnosis and management options for individuals with PC gene deficiency.

What is Pyruvate Carboxylase Deficiency?

Pyruvate Carboxylase Deficiency is a rare genetic disorder caused by mutations in the PC gene. This gene provides instructions for making the pyruvate carboxylase enzyme, which is crucial for the body's energy production process. Pyruvate Carboxylase converts pyruvate, a molecule produced during glucose metabolism, into oxaloacetate, which is used in the production of energy. In individuals with Pyruvate Carboxylase Deficiency, the enzyme is either not produced or produced in insufficient amounts. This leads to a buildup of pyruvate in the body, which can cause damage to the brain, liver, and other organs.

Symptoms of Pyruvate Carboxylase Deficiency

The symptoms of Pyruvate Carboxylase Deficiency can vary widely depending on the severity of the disease and the age of onset. Some of the common symptoms include:

• Developmental delays
• Low muscle tone
• Weakness
• Seizures
• Abnormal movements
• Enlarged liver
• Low blood sugar

Diagnosis of Pyruvate Carboxylase Deficiency

Diagnosis of Pyruvate Carboxylase Deficiency involves a series of tests, including blood tests, urine tests, and imaging studies. However, the most definitive diagnosis is genetic testing. The NGS Genetic DNA test offered by DNA Labs India can identify mutations in the PC gene and provide a definitive diagnosis of Pyruvate Carboxylase Deficiency.

NGS Genetic DNA Test Cost

The cost of the NGS Genetic DNA test for Pyruvate Carboxylase Deficiency is INR 20,000. This test is an affordable option for individuals who suspect they may have Pyruvate Carboxylase Deficiency or have a family history of the disease. Early diagnosis through genetic testing can provide individuals with the opportunity for early intervention and management of the disease.

Conclusion

Pyruvate Carboxylase Deficiency is a rare genetic disorder that can cause significant health problems if left untreated. The NGS Genetic DNA test offered by DNA Labs India can provide early diagnosis and management options for individuals with Pyruvate Carboxylase Deficiency. At a cost of INR 20,000, this test is an affordable option for individuals who suspect they may have the disease or have a family history of the disease. Early diagnosis through genetic testing can provide individuals with the opportunity for early intervention and management of the disease.

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