PDHX Gene Lacticacidemia due to PDX1 deficiency Genetic Test
Test Name: PDHX Gene Lacticacidemia due to PDX1 deficiency Genetic Test
Components: PDHX gene analysis
Price: 4400.0 AED
Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card
Report Delivery: 3 to 4 Weeks
Method: NGS Technology
Test Type: Metabolic Disorders
Doctor: General Physician
Test Department: Genetics
Pre Test 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.
Test Details
PDHX gene lacticacidemia refers to a condition where an individual has elevated levels of lactic acid in their blood due to a deficiency in the PDX1 gene. The PDX1 gene provides instructions for making a protein called pancreatic and duodenal homeobox 1, which is involved in the development and function of the pancreas.
Lactic acid is a byproduct of the body’s energy production process. In normal conditions, it is cleared from the blood by the liver. However, in individuals with PDHX gene lacticacidemia, the deficiency in PDX1 gene leads to impaired pancreatic function, resulting in reduced insulin production and increased lactic acid production.
To diagnose PDHX gene lacticacidemia, a NGS (Next-Generation Sequencing) genetic test is performed. NGS is a high-throughput DNA sequencing technology that allows for the simultaneous sequencing of multiple genes. In this case, the test would analyze the PDHX gene to identify any genetic variants or mutations that may be responsible for the lacticacidemia.
The NGS genetic test can help confirm the diagnosis of PDHX gene lacticacidemia and provide information about the specific genetic variant or mutation present. This information can be valuable in understanding the underlying cause of the condition and guiding treatment decisions. It can also help identify other family members who may be at risk of developing the condition.
| Test Name | PDHX Gene Lacticacidemia due to PDX1 deficiency Genetic Test |
|---|---|
| Components | |
| Price | 4400.0 AED |
| Sample Condition | Blood or Extracted DNA or One drop Blood on FTA Card |
| Report Delivery | 3 to 4 Weeks |
| Method | NGS Technology |
| Test type | Metabolic Disorders |
| Doctor | General Physician |
| Test Department: | Genetics |
| Pre Test 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 |
| Test Details | PDHX gene lacticacidemia refers to a condition where an individual has elevated levels of lactic acid in their blood due to a deficiency in the PDX1 gene. The PDX1 gene provides instructions for making a protein called pancreatic and duodenal homeobox 1, which is involved in the development and function of the pancreas. Lactic acid is a byproduct of the body’s energy production process. In normal conditions, it is cleared from the blood by the liver. However, in individuals with PDHX gene lacticacidemia, the deficiency in PDX1 gene leads to impaired pancreatic function, resulting in reduced insulin production and increased lactic acid production. To diagnose PDHX gene lacticacidemia, a NGS (Next-Generation Sequencing) genetic test is performed. NGS is a high-throughput DNA sequencing technology that allows for the simultaneous sequencing of multiple genes. In this case, the test would analyze the PDHX gene to identify any genetic variants or mutations that may be responsible for the lacticacidemia. The NGS genetic test can help confirm the diagnosis of PDHX gene lacticacidemia and provide information about the specific genetic variant or mutation present. This information can be valuable in understanding the underlying cause of the condition and guiding treatment decisions. It can also help identify other family members who may be at risk of developing the condition. |
