MTRR Gene Homocystinuria-megaloblastic anemia cbl E type Genetic Test
At DNA Labs UAE, we offer the MTRR Gene Homocystinuria-megaloblastic anemia cbl E type Genetic Test. This test is designed to analyze the MTRR gene and identify mutations that may be associated with homocystinuria-megaloblastic anemia, cbl E type.
Test Details
The MTRR gene is responsible for providing instructions to make an enzyme called methionine synthase reductase. This enzyme plays a crucial role in the conversion of homocysteine to methionine, an essential amino acid. Mutations in the MTRR gene can lead to a condition called homocystinuria-megaloblastic anemia, cbl E type.
Homocystinuria-megaloblastic anemia, cbl E type is an inherited disorder characterized by the inability to properly process homocysteine, leading to its accumulation in the body. This condition can result in various health problems, including megaloblastic anemia (a type of anemia characterized by large, immature red blood cells), intellectual disability, developmental delay, seizures, and other neurological issues.
NGS (Next-Generation Sequencing) genetic testing is a technique used to analyze multiple genes simultaneously and identify mutations or variations that may be associated with a particular condition. In the case of homocystinuria-megaloblastic anemia, cbl E type, NGS genetic testing can help identify mutations in the MTRR gene, allowing for an accurate diagnosis of the condition.
By identifying the specific mutation in the MTRR gene, healthcare professionals can provide appropriate management and treatment options for individuals with homocystinuria-megaloblastic anemia, cbl E type. This may include dietary changes, vitamin supplementation, and other interventions to help manage the symptoms and prevent complications associated with the condition.
Test Components and Price
The MTRR Gene Homocystinuria-megaloblastic anemia cbl E type Genetic Test is priced at 4400.0 AED. The test can be performed on blood or extracted DNA, or by using one drop of blood on an FTA card.
Report Delivery
The report for the MTRR Gene Homocystinuria-megaloblastic anemia cbl E type Genetic Test will be delivered within 3 to 4 weeks.
Method
The MTRR Gene Homocystinuria-megaloblastic anemia cbl E type Genetic Test utilizes NGS (Next-Generation Sequencing) technology.
Test Type
The MTRR Gene Homocystinuria-megaloblastic anemia cbl E type Genetic Test falls under the category of Vascular Diseases.
Referring Doctor and Test Department
This test is typically ordered by a General Physician and is conducted in the Genetics department.
Pre Test Information
Prior to undergoing the MTRR Gene Homocystinuria-megaloblastic anemia cbl E type NGS Genetic DNA Test, it is important to provide the clinical history of the patient. Additionally, a genetic counseling session may be conducted to draw a pedigree chart of family members affected by MTRR Gene Homocystinuria-megaloblastic anemia, cbl E type NGS Genetic DNA Test gene MTRR.
Test Name | MTRR Gene Homocystinuria-megaloblastic anemia cbl E type 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 | Vascular Diseases |
Doctor | General Physician |
Test Department: | Genetics |
Pre Test Information | Clinical History of Patient who is going for MTRR Gene Homocystinuria-megaloblastic anemia, cbl E type NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with MTRR Gene Homocystinuria-megaloblastic anemia, cbl E type NGS Genetic DNA Test gene MTRR |
Test Details |
The MTRR gene is responsible for providing instructions to make an enzyme called methionine synthase reductase. This enzyme plays a crucial role in the conversion of homocysteine to methionine, an essential amino acid. Mutations in the MTRR gene can lead to a condition called homocystinuria-megaloblastic anemia, cbl E type. Homocystinuria-megaloblastic anemia, cbl E type is an inherited disorder characterized by the inability to properly process homocysteine, leading to its accumulation in the body. This condition can result in various health problems, including megaloblastic anemia (a type of anemia characterized by large, immature red blood cells), intellectual disability, developmental delay, seizures, and other neurological issues. NGS (Next-Generation Sequencing) genetic testing is a technique used to analyze multiple genes simultaneously and identify mutations or variations that may be associated with a particular condition. In the case of homocystinuria-megaloblastic anemia, cbl E type, NGS genetic testing can help identify mutations in the MTRR gene, allowing for an accurate diagnosis of the condition. By identifying the specific mutation in the MTRR gene, healthcare professionals can provide appropriate management and treatment options for individuals with homocystinuria-megaloblastic anemia, cbl E type. This may include dietary changes, vitamin supplementation, and other interventions to help manage the symptoms and prevent complications associated with the condition. |