DLAT Gene Pyruvate dehydrogenase E2 deficiency Genetic Test
Components: DLAT gene Pyruvate dehydrogenase E2 deficiency Genetic Test
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 DLAT Gene Pyruvate dehydrogenase E2 deficiency NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with Pyruvate dehydrogenase E2 deficiency.
Test Details: DLAT gene Pyruvate dehydrogenase E2 deficiency NGS Genetic Test is a genetic test that uses next-generation sequencing (NGS) technology to analyze the DLAT gene for mutations or variations that may cause pyruvate dehydrogenase E2 deficiency. Pyruvate dehydrogenase E2 deficiency is a rare genetic disorder that affects the pyruvate dehydrogenase complex, an enzyme complex involved in energy production in cells. This deficiency can lead to a variety of symptoms, including developmental delay, intellectual disability, muscle weakness, and neurological problems. The DLAT gene provides instructions for making the E2 component of the pyruvate dehydrogenase complex. Mutations or variations in this gene can disrupt the function of the complex and lead to pyruvate dehydrogenase E2 deficiency. The NGS Genetic Test for DLAT gene Pyruvate dehydrogenase E2 deficiency involves sequencing the entire DLAT gene to identify any mutations or variations. This test can help diagnose individuals with suspected pyruvate dehydrogenase E2 deficiency and provide information about the specific genetic cause of the condition. The results of this genetic test can be used for genetic counseling, determining prognosis, and guiding treatment decisions. Treatment for pyruvate dehydrogenase E2 deficiency may involve dietary modifications, supplements, and supportive therapies to manage symptoms and improve quality of life. It is important to note that this genetic test should be ordered and interpreted by a healthcare professional with expertise in genetics. They can provide appropriate counseling and guidance based on the test results.
Test Name | DLAT Gene Pyruvate dehydrogenase E2 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 DLAT Gene Pyruvate dehydrogenase E2 deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Pyruvate dehydrogenase E2 deficiency |
Test Details |
DLAT gene Pyruvate dehydrogenase E2 deficiency NGS Genetic Test is a genetic test that uses next-generation sequencing (NGS) technology to analyze the DLAT gene for mutations or variations that may cause pyruvate dehydrogenase E2 deficiency. Pyruvate dehydrogenase E2 deficiency is a rare genetic disorder that affects the pyruvate dehydrogenase complex, an enzyme complex involved in energy production in cells. This deficiency can lead to a variety of symptoms, including developmental delay, intellectual disability, muscle weakness, and neurological problems. The DLAT gene provides instructions for making the E2 component of the pyruvate dehydrogenase complex. Mutations or variations in this gene can disrupt the function of the complex and lead to pyruvate dehydrogenase E2 deficiency. The NGS Genetic Test for DLAT gene Pyruvate dehydrogenase E2 deficiency involves sequencing the entire DLAT gene to identify any mutations or variations. This test can help diagnose individuals with suspected pyruvate dehydrogenase E2 deficiency and provide information about the specific genetic cause of the condition. The results of this genetic test can be used for genetic counseling, determining prognosis, and guiding treatment decisions. Treatment for pyruvate dehydrogenase E2 deficiency may involve dietary modifications, supplements, and supportive therapies to manage symptoms and improve quality of life. It is important to note that this genetic test should be ordered and interpreted by a healthcare professional with expertise in genetics. They can provide appropriate counseling and guidance based on the test results. |