PDP1 Gene Pyruvate Dehydrogenase Phosphatase Deficiency Genetic Test
Genetic testing is an essential tool in diagnosing and understanding various genetic disorders. One such disorder is Pyruvate Dehydrogenase Phosphatase (PDP1) deficiency, which affects the pyruvate dehydrogenase complex responsible for breaking down carbohydrates for energy production.
Test Details
The PDP1 Gene Pyruvate Dehydrogenase Phosphatase Deficiency Genetic Test is a comprehensive genetic test that utilizes Next-Generation Sequencing (NGS) technology. This test aims to analyze the PDP1 gene for mutations associated with pyruvate dehydrogenase phosphatase deficiency.
Pyruvate Dehydrogenase Phosphatase Deficiency is a rare genetic disorder that can lead to various symptoms, including developmental delay, intellectual disability, muscle weakness, and seizures. By sequencing the entire coding region of the PDP1 gene, this test can identify potential pathogenic variants responsible for the condition.
Test Components and Price
The PDP1 Gene Pyruvate Dehydrogenase Phosphatase Deficiency Genetic Test costs AED 4400.0. The test can be performed using blood or extracted DNA samples. Alternatively, one drop of blood can be collected on an FTA card for testing.
Report Delivery and Method
After the sample is collected, the report delivery typically takes 3 to 4 weeks. The test utilizes NGS technology, which is a cutting-edge sequencing method that allows for accurate and efficient analysis of the PDP1 gene.
Test Type and Doctor
The PDP1 Gene Pyruvate Dehydrogenase Phosphatase Deficiency Genetic Test falls under the category of metabolic disorders. This test is recommended for individuals who are referred by a General Physician.
Test Department and Pre-Test Information
The test is conducted in the Genetics department of DNA Labs UAE. Before undergoing the PDP1 Gene Pyruvate Dehydrogenase Phosphatase Deficiency Genetic Test, it is important to provide a clinical history of the patient. Additionally, a genetic counseling session may be conducted to draw a pedigree chart of family members affected by the condition.
Importance of Genetic Testing and Counseling
Genetic testing plays a crucial role in diagnosing and managing genetic disorders. However, it is essential that these tests are performed and interpreted by qualified healthcare professionals, such as geneticists or genetic counselors. These professionals can provide appropriate guidance and counseling based on the test results.
The information obtained from the PDP1 Gene Pyruvate Dehydrogenase Phosphatase Deficiency Genetic Test can be valuable for genetic counseling, family planning, and potentially guiding treatment decisions. It allows individuals and their families to understand the specific genetic mutation causing the condition, which can help in making informed decisions about their health and future.
Overall, the PDP1 Gene Pyruvate Dehydrogenase Phosphatase Deficiency Genetic Test is a vital tool in diagnosing and managing this rare genetic disorder. It offers valuable insights into the genetic makeup of individuals affected by the condition, enabling healthcare professionals to provide personalized care and support.
| Test Name | PDP1 Gene Pyruvate dehydrogenase phosphatase 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 PDP1 Gene Pyruvate dehydrogenase phosphatase deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Pyruvate dehydrogenase phosphatase deficiency |
| Test Details |
PDP1 gene pyruvate dehydrogenase phosphatase deficiency NGS genetic test is a type of genetic test that uses Next-Generation Sequencing (NGS) technology to analyze the PDP1 gene for mutations associated with pyruvate dehydrogenase phosphatase deficiency. Pyruvate dehydrogenase phosphatase deficiency is a rare genetic disorder that affects the pyruvate dehydrogenase complex, an enzyme involved in the breakdown of carbohydrates for energy production. Mutations in the PDP1 gene can result in a deficiency of pyruvate dehydrogenase phosphatase, leading to impaired energy production and various symptoms such as developmental delay, intellectual disability, muscle weakness, and seizures. The NGS genetic test for PDP1 gene mutations involves sequencing the entire coding region of the gene to identify any potential pathogenic variants. This test can help diagnose individuals with pyruvate dehydrogenase phosphatase deficiency and provide information about the specific genetic mutation causing the condition. This information can be valuable for genetic counseling, family planning, and potentially guiding treatment decisions. It is important to note that genetic testing should be performed and interpreted by qualified healthcare professionals, such as geneticists or genetic counselors, who can provide appropriate guidance and counseling based on the results. |
