CYB5R3 Gene Methemoglobinemia type 1 Genetic Test
Cost: AED 4400.0
Symptoms, Diagnosis, and Test Details
The CYB5R3 gene is responsible for producing an enzyme called cytochrome b5 reductase 3, which plays a crucial role in the metabolism of hemoglobin. Mutations in this gene can lead to a condition called methemoglobinemia type 1.
Methemoglobinemia type 1 is a rare inherited blood disorder that affects the ability of red blood cells to carry oxygen. Individuals with this condition may experience symptoms such as cyanosis (bluish skin color), shortness of breath, fatigue, and increased heart rate.
NGS (Next-Generation Sequencing) genetic testing is a technique used to analyze multiple genes simultaneously, allowing for the identification of genetic variations or mutations. In the case of methemoglobinemia type 1, NGS genetic testing can be used to detect mutations in the CYB5R3 gene, which can help in diagnosing the condition.
Test Components and Method
- Test Name: CYB5R3 Gene Methemoglobinemia type 1 Genetic Test
- Price: AED 4400.0
- Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card
- Report Delivery: 3 to 4 Weeks
- Method: NGS Technology
- Test Type: Hematology
- Doctor: Hematologist
- Test Department: Genetics
Pre Test Information
Before undergoing the CYB5R3 Gene Methemoglobinemia type 1 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 with the CYB5R3 Gene Methemoglobinemia type 1 NGS Genetic DNA Test gene CYB5R3.
Benefits of NGS Genetic Testing
NGS genetic testing can provide valuable information for both diagnosis and genetic counseling. It can help determine the risk of passing on the condition to future generations and guide treatment decisions for affected individuals.
It’s important to note that NGS genetic testing should be performed and interpreted by qualified healthcare professionals or genetic counselors who specialize in genetic testing and rare genetic disorders. They can provide appropriate counseling and support based on the results of the test.
Test Name | CYB5R3 Gene Methemoglobinemia type 1 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 | Hematology |
Doctor | Hematologist |
Test Department: | Genetics |
Pre Test Information | Clinical History of Patient who is going for CYB5R3 Gene Methemoglobinemia type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CYB5R3 Gene Methemoglobinemia type 1 NGS Genetic DNA Test gene CYB5R3 |
Test Details |
The CYB5R3 gene is responsible for producing an enzyme called cytochrome b5 reductase 3, which plays a crucial role in the metabolism of hemoglobin. Mutations in this gene can lead to a condition called methemoglobinemia type 1. Methemoglobinemia type 1 is a rare inherited blood disorder that affects the ability of red blood cells to carry oxygen. Normally, hemoglobin carries oxygen from the lungs to the rest of the body, but in individuals with methemoglobinemia type 1, the hemoglobin is unable to release oxygen effectively. This can result in symptoms such as cyanosis (bluish skin color), shortness of breath, fatigue, and increased heart rate. NGS (Next-Generation Sequencing) genetic testing is a technique used to analyze multiple genes simultaneously, allowing for the identification of genetic variations or mutations. In the case of methemoglobinemia type 1, NGS genetic testing can be used to detect mutations in the CYB5R3 gene, which can help in diagnosing the condition. By identifying specific mutations in the CYB5R3 gene, NGS genetic testing can provide valuable information for both diagnosis and genetic counseling. It can help determine the risk of passing on the condition to future generations and guide treatment decisions for affected individuals. It’s important to note that NGS genetic testing should be performed and interpreted by qualified healthcare professionals or genetic counselors who specialize in genetic testing and rare genetic disorders. They can provide appropriate counseling and support based on the results of the test. |