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CYB5R3 Gene Methemoglobinemia Type 1 Genetic Test

Original price was: 5,600 د.إ.Current price is: 4,400 د.إ.

-21%

The CYB5R3 gene methemoglobinemia type 1 genetic test is a specialized diagnostic examination aimed at identifying mutations in the CYB5R3 gene, which are responsible for causing methemoglobinemia type 1. Methemoglobinemia is a rare blood disorder characterized by an increased level of methemoglobin in the blood, leading to symptoms such as cyanosis, fatigue, and in severe cases, neurological complications. Type 1 methemoglobinemia, also known as the erythrocyte type, is inherited in an autosomal recessive pattern and primarily affects the red blood cells’ ability to release oxygen to tissues.

The test involves collecting a DNA sample, typically through a blood draw, and analyzing it for specific genetic mutations in the CYB5R3 gene. Identifying these mutations can confirm a diagnosis of methemoglobinemia type 1, guide treatment decisions, and help assess the risk of passing the condition on to future generations.

Conducted by DNA Labs UAE, a leading provider of genetic testing services in the United Arab Emirates, the test is priced at 4400 AED. DNA Labs UAE is known for its state-of-the-art facilities and adherence to international standards in genetic diagnostics, ensuring accurate and reliable test results. This test is crucial for individuals with a family history of methemoglobinemia or those exhibiting symptoms of the disorder, as early detection and management can significantly improve the quality of life.

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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.

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