Short Description

NGS genetic DNA test detecets for variant and mutation detection in PDHX gene for Lacticacidemia due to PDX1 deficiency

PreTest Information

Clinical History of Patient who is going for PDHX Gene Lacticacidemia due to PDX1 deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Lacticacidemia due to PDX1 deficiency

Detail Description

PDHX Gene Lacticacidemia due to PDX1 Deficiency NGS Genetic DNA Test

Lacticacidemia is a medical condition characterized by the accumulation of lactic acid in the body. It is a rare disorder that can be caused due to a deficiency of the PDX1 gene. The PDX1 gene encodes for a protein that is involved in the regulation of glucose and insulin secretion. Mutations in this gene can lead to the development of lacticacidemia.

Symptoms of Lacticacidemia due to PDX1 Deficiency

The symptoms of lacticacidemia due to PDX1 deficiency are similar to those of other forms of lactic acidosis. They include:

• Severe muscle weakness
• Fatigue
• Shortness of breath
• Abdominal pain
• Loss of appetite
• Confusion
• Seizures

Diagnosis of Lacticacidemia due to PDX1 Deficiency

Lacticacidemia due to PDX1 deficiency can be diagnosed through genetic testing. Next-generation sequencing (NGS) is a powerful tool that can be used to analyze the entire sequence of the PDX1 gene. NGS can detect mutations in the gene that may be responsible for the development of lacticacidemia.

Cost of NGS Genetic DNA Test for Lacticacidemia due to PDX1 Deficiency

The cost of NGS genetic DNA test for lacticacidemia due to PDX1 deficiency in India is approximately INR 20,000. This cost may vary depending on the laboratory that is performing the test.

Conclusion

Lacticacidemia due to PDX1 deficiency is a rare disorder that can be diagnosed through genetic testing. NGS is a powerful tool that can be used to detect mutations in the PDX1 gene that may be responsible for the development of lacticacidemia. If you are experiencing symptoms of lacticacidemia, it is important to consult a healthcare provider for proper diagnosis and treatment.