Short Description

NGS genetic DNA test detecets for variant and mutation detection in PDHA1 gene for Pyruvate dehydrogenase E1-alpha deficiency

PreTest Information

Clinical History of Patient who is going for PDHA1 Gene Pyruvate dehydrogenase E1-alpha deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Pyruvate dehydrogenase E1-alpha deficiency

Detail Description

PDHA1 Gene Pyruvate Dehydrogenase E1-alpha Deficiency NGS Genetic DNA Test Cost INR 20000: Symptoms, Diagnosis

PDHA1 Gene Pyruvate Dehydrogenase E1-alpha Deficiency is a genetic disorder that affects the body's ability to convert food into energy. The disorder is caused by mutations in the PDHA1 gene, which provides instructions for making the E1-alpha subunit of the pyruvate dehydrogenase complex. This complex is responsible for converting pyruvate into acetyl-CoA, which is used by the body to produce energy.

Symptoms of PDHA1 Gene Pyruvate Dehydrogenase E1-alpha Deficiency can vary widely, but they often include developmental delay, intellectual disability, seizures, and ataxia. Other symptoms may include muscle weakness, low muscle tone, and problems with vision and hearing. The severity of the symptoms can also vary widely, and some people may only have mild symptoms while others may have severe symptoms that significantly impact their quality of life.

Diagnosis of PDHA1 Gene Pyruvate Dehydrogenase E1-alpha Deficiency is typically done through genetic testing. Next-generation sequencing (NGS) genetic DNA testing is often used to identify mutations in the PDHA1 gene. This type of testing allows for the analysis of multiple genes at once, which can be particularly useful for identifying genetic disorders that involve multiple genes.

The cost of NGS genetic DNA testing for PDHA1 Gene Pyruvate Dehydrogenase E1-alpha Deficiency in India is typically around INR 20000. This cost may vary depending on the specific testing facility and the extent of the testing that is done. It is important to speak with a healthcare provider or genetic counselor to determine the most appropriate testing options for an individual's specific needs.

In conclusion, PDHA1 Gene Pyruvate Dehydrogenase E1-alpha Deficiency is a genetic disorder that can significantly impact an individual's quality of life. Diagnosis is typically done through genetic testing, and NGS genetic DNA testing is often used to identify mutations in the PDHA1 gene. The cost of this testing in India is typically around INR 20000. Anyone who suspects they may have this disorder or who has a family history of the disorder should speak with a healthcare provider or genetic counselor to discuss testing options.

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 PDHA1 Gene Pyruvate dehydrogenase E1-alpha deficiency NGS Genetic DNA Test