Short Description

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

PreTest Information

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

Detail Description

PDHB Gene Pyruvate dehydrogenase E1-beta deficiency NGS Genetic DNA Test cost INR:20000 symptoms diagnosis

PDHB Gene Pyruvate dehydrogenase E1-beta deficiency is a rare genetic disorder that affects the body's ability to convert food into energy. The condition is caused by mutations in the PDHB gene, which provides instructions for making a protein that is part of the pyruvate dehydrogenase complex.

At DNA Labs India, we offer NGS Genetic DNA Test for PDHB Gene Pyruvate dehydrogenase E1-beta deficiency. The cost of this test is INR 20000. This test uses next-generation sequencing (NGS) technology to analyze the PDHB gene and identify any mutations or changes that may be present.

Symptoms of PDHB Gene Pyruvate dehydrogenase E1-beta deficiency

The symptoms of PDHB Gene Pyruvate dehydrogenase E1-beta deficiency can vary widely among affected individuals. Some people may have mild symptoms, while others may have more severe symptoms. The most common symptoms include:

• Developmental delay
• Low muscle tone (hypotonia)
• Seizures
• Intellectual disability
• Abnormal movements
• Weakness or paralysis
• Poor feeding and growth
• Abnormalities in brain structure or function

Diagnosis of PDHB Gene Pyruvate dehydrogenase E1-beta deficiency

Diagnosis of PDHB Gene Pyruvate dehydrogenase E1-beta deficiency is based on clinical symptoms, family history, and genetic testing. At DNA Labs India, we offer NGS Genetic DNA Test for PDHB Gene Pyruvate dehydrogenase E1-beta deficiency to confirm the diagnosis.

If you or your child has symptoms of PDHB Gene Pyruvate dehydrogenase E1-beta deficiency, talk to your doctor about genetic testing. Early diagnosis and treatment can help improve outcomes for individuals with this condition.

Conclusion

PDHB Gene Pyruvate dehydrogenase E1-beta deficiency is a rare genetic disorder that affects the body's ability to convert food into energy. At DNA Labs India, we offer NGS Genetic DNA Test for PDHB Gene Pyruvate dehydrogenase E1-beta deficiency at a cost of INR 20000. If you or your child has symptoms of this condition, talk to your doctor about 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 PDHB Gene Pyruvate dehydrogenase E1-beta deficiency NGS Genetic DNA Test