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Requisites
Measures

Number of red blood cells in the blood

Identifies

Red blood cell disorders

Measures: Number of red blood cells in the blood

Identifies: Red blood cell disorders

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What is the maximum days the report can be obtained for the test

The report for the Methemoglobinemia (CYB5R3) Gene Analysis Test can be obtained within 14-21 days after the test is conducted.

What are the prerequisites for the test Methemoglobinemia (CYB5R3) Gene Analysis Test

  • Patient must have symptoms suggestive of methemoglobinemia
  • Physician's order for the test
  • Consent form signed by the patient or legal guardian
  • Complete blood count (CBC) test results
  • Medical history of the patient
  • Any relevant family history of methemoglobinemia

What are the measure values for the test Methemoglobinemia (CYB5R3) Gene Analysis Test

  • Test Name: Methemoglobinemia (CYB5R3) Gene Analysis Test
  • Measure Values:
    • Gene: CYB5R3
    • Test Type: Genetic Testing
    • Method: Polymerase Chain Reaction (PCR)
    • Result Interpretation: Positive/Negative for CYB5R3 gene mutation
    • Reference Range: Not applicable

What does this test Methemoglobinemia (CYB5R3) Gene Analysis Test identify?

  • This test identifies mutations in the CYB5R3 gene which are associated with Methemoglobinemia.
  • Methemoglobinemia is a rare blood disorder characterized by the presence of higher than normal levels of methemoglobin in the blood.
  • The CYB5R3 gene provides instructions for making an enzyme called cytochrome b5 reductase 3, which is involved in the process of converting methemoglobin back to hemoglobin.
  • Mutations in the CYB5R3 gene can lead to a deficiency of cytochrome b5 reductase 3, resulting in the accumulation of methemoglobin in the blood.
  • Individuals with Methemoglobinemia may experience symptoms such as cyanosis (bluish discoloration of the skin and mucous membranes), fatigue, headache, shortness of breath, and dizziness.
  • Genetic testing for mutations in the CYB5R3 gene can help confirm a diagnosis of Methemoglobinemia and guide treatment options.

Why is this test Methemoglobinemia (CYB5R3) Gene Analysis Test taken?

Why is the Methemoglobinemia (CYB5R3) Gene Analysis Test taken?

The Methemoglobinemia (CYB5R3) Gene Analysis Test is taken to identify mutations in the CYB5R3 gene that are associated with methemoglobinemia. Methemoglobinemia is a rare blood disorder that results in the presence of an abnormal form of hemoglobin called methemoglobin, which cannot effectively carry oxygen to tissues. This condition can lead to symptoms such as blue discoloration of the skin, shortness of breath, fatigue, and headache.

By performing this genetic test, healthcare providers can determine if a patient has mutations in the CYB5R3 gene that may be causing their methemoglobinemia. This information is essential for proper diagnosis, treatment, and genetic counseling for individuals and their families.

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