Short Description

NGS genetic DNA test detecets for variant and mutation detection in PDP1 gene for Pyruvate dehydrogenase phosphatase deficiency

PreTest Information

Clinical History of Patient who is going for PDP1 Gene Pyruvate dehydrogenase phosphatase deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Pyruvate dehydrogenase phosphatase deficiency

Detail Description

PDP1 Gene Pyruvate Dehydrogenase Phosphatase Deficiency NGS Genetic DNA Test

Pyruvate dehydrogenase phosphatase deficiency is a rare genetic disorder that affects the metabolism of carbohydrates and leads to an inability to break down glucose efficiently. The PDP1 gene provides instructions for making an enzyme called pyruvate dehydrogenase phosphatase, which is necessary for the proper functioning of pyruvate dehydrogenase complex.

The pyruvate dehydrogenase complex is essential for the conversion of carbohydrates into energy in the mitochondria of cells. In individuals with PDP1 gene mutations, the pyruvate dehydrogenase complex is not able to function properly, leading to a buildup of pyruvate and lactic acid in the body. This can cause a variety of symptoms including developmental delay, intellectual disability, seizures, and muscle weakness.

Symptoms of PDP1 Gene Pyruvate Dehydrogenase Phosphatase Deficiency

The symptoms of PDP1 gene pyruvate dehydrogenase phosphatase deficiency can vary greatly from person to person. Some individuals may have mild symptoms while others may have severe symptoms that affect their daily life. Common symptoms include:

• Developmental delay
• Intellectual disability
• Seizures
• Muscle weakness
• Difficulty feeding
• Low muscle tone
• Abnormal eye movements

Diagnosis of PDP1 Gene Pyruvate Dehydrogenase Phosphatase Deficiency

Diagnosis of PDP1 gene pyruvate dehydrogenase phosphatase deficiency is typically done through genetic testing. A sample of DNA is taken and analyzed for mutations in the PDP1 gene. This can be done through next-generation sequencing (NGS) technology, which can identify mutations in multiple genes at once.

It is important to diagnose PDP1 gene pyruvate dehydrogenase phosphatase deficiency early on as it can lead to better management of symptoms and a better quality of life for the individual.

NGS Genetic DNA Test for PDP1 Gene Pyruvate Dehydrogenase Phosphatase Deficiency

The NGS genetic DNA test for PDP1 gene pyruvate dehydrogenase phosphatase deficiency is a highly accurate and reliable way to diagnose the condition. The test involves taking a sample of DNA, typically from a blood or saliva sample, and analyzing it for mutations in the PDP1 gene. The cost of the test is typically around INR 20,000.

The NGS genetic DNA test is a non-invasive and relatively quick way to diagnose PDP1 gene pyruvate dehydrogenase phosphatase deficiency. It is important to talk to a healthcare professional about any concerns or questions regarding the test.

Conclusion

PDP1 gene pyruvate dehydrogenase phosphatase deficiency is a rare genetic disorder that can cause a variety of symptoms including developmental delay, intellectual disability, seizures, and muscle weakness. The condition is typically diagnosed through genetic testing, specifically the NGS genetic DNA test, which can accurately identify mutations in the PDP1 gene. Early diagnosis is important for better management of symptoms and a better quality of life for the individual.

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 PDP1 Gene Pyruvate dehydrogenase phosphatase deficiency NGS Genetic DNA Test