OGDH Gene Alpha-ketoglutarate dehydrogenase deficiency Genetic Test
At DNA Labs UAE, we offer the OGDH Gene Alpha-ketoglutarate dehydrogenase deficiency Genetic Test at a cost of AED 3200.0. This test is used to diagnose OGDH gene deficiency, a rare genetic disorder that affects the body’s ability to break down certain amino acids and produce energy.
Test Details
The OGDH gene, also known as alpha-ketoglutarate dehydrogenase (OGDH) deficiency, is caused by mutations in the OGDH gene. This gene provides instructions for making an enzyme called alpha-ketoglutarate dehydrogenase, which is involved in the tricarboxylic acid cycle (Krebs cycle) that generates energy from carbohydrates, fats, and proteins.
Symptoms
Symptoms of OGDH gene deficiency can vary widely, but commonly include developmental delay, intellectual disability, seizures, movement disorders, and abnormal muscle tone. Some affected individuals may also have specific facial features, such as a high forehead, low-set ears, and a small chin.
Diagnosis
To diagnose OGDH gene deficiency, we use a genetic test called next-generation sequencing (NGS). NGS is a high-throughput DNA sequencing technology that can analyze multiple genes simultaneously. This test can identify mutations or variations in the OGDH gene, confirming the diagnosis of OGDH gene deficiency.
Test Components and Price
The OGDH Gene Alpha-ketoglutarate dehydrogenase deficiency Genetic Test costs AED 3200.0. The sample condition required for the test can be either blood, extracted DNA, or one drop of blood on an FTA Card.
Report Delivery and Method
The report for the OGDH Gene Alpha-ketoglutarate dehydrogenase deficiency Genetic Test will be delivered within 3 to 4 weeks. The test is performed using NGS technology.
Test Type and Doctor
The OGDH Gene Alpha-ketoglutarate dehydrogenase deficiency Genetic Test falls under the category of metabolic disorders. It is recommended to consult with a General Physician for this test.
Test Department and Pre Test Information
The OGDH Gene Alpha-ketoglutarate dehydrogenase deficiency Genetic Test is conducted in the Genetics department. Before undergoing the test, it is important to provide the clinical history of the patient and participate in a Genetic Counselling session to draw a pedigree chart of family members affected with Alpha-ketoglutarate dehydrogenase deficiency.
Importance of Genetic Testing
Genetic testing for OGDH gene deficiency can provide a definitive diagnosis, help understand the inheritance pattern, and guide appropriate management and treatment options. It can also provide information about the risk of passing the condition to future generations. It is important to consult with a healthcare professional or a genetic counselor to discuss the benefits, limitations, and implications of genetic testing for OGDH gene deficiency. They can provide guidance on whether testing is appropriate, help interpret the results, and provide support throughout the process.
| Test Name | OGDH Gene Alpha-ketoglutarate dehydrogenase deficiency Genetic Test |
|---|---|
| Components | |
| Price | 3200.0 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 OGDH Gene Alpha-ketoglutarate dehydrogenase deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Alpha-ketoglutarate dehydrogenase deficiency |
| Test Details |
OGDH gene, also known as alpha-ketoglutarate dehydrogenase (OGDH) deficiency, is a rare genetic disorder that affects the body’s ability to break down certain amino acids and produce energy. This condition is caused by mutations in the OGDH gene, which provides instructions for making an enzyme called alpha-ketoglutarate dehydrogenase. The alpha-ketoglutarate dehydrogenase enzyme is involved in a process called the tricarboxylic acid cycle, also known as the Krebs cycle. This cycle is essential for generating energy from carbohydrates, fats, and proteins. Mutations in the OGDH gene lead to a deficiency or dysfunction of the alpha-ketoglutarate dehydrogenase enzyme, disrupting the energy production process. Symptoms of OGDH gene deficiency can vary widely, but commonly include developmental delay, intellectual disability, seizures, movement disorders, and abnormal muscle tone. Some affected individuals may also have specific facial features, such as a high forehead, low-set ears, and a small chin. To diagnose OGDH gene deficiency, a genetic test called next-generation sequencing (NGS) can be performed. NGS is a high-throughput DNA sequencing technology that can analyze multiple genes simultaneously. This test can identify mutations or variations in the OGDH gene, confirming the diagnosis of OGDH gene deficiency. Genetic testing for OGDH gene deficiency can help in providing a definitive diagnosis, understanding the inheritance pattern, and guiding appropriate management and treatment options. It can also provide information about the risk of passing the condition to future generations. It is important to consult with a healthcare professional or a genetic counselor to discuss the benefits, limitations, and implications of genetic testing for OGDH gene deficiency. They can provide guidance on whether testing is appropriate, help interpret the results, and provide support throughout the process. |
