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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 maximum days the report can be obtained for the test Hyperargininemia (ARG1) Gene Analysis Test is 21 days.

What are the prerequisites for the test Hyperargininemia (ARG1) Gene Analysis Test

  • Patient must have clinical symptoms suggestive of hyperargininemia
  • Confirmation of elevated plasma arginine levels
  • Consent form signed by the patient or legal guardian

What are the measure values for the test Hyperargininemia (ARG1) Gene Analysis Test

  • Test Name: Hyperargininemia (ARG1) Gene Analysis Test
  • Measure Values:
    • ARG1 Gene Mutation Present: Positive
    • ARG1 Gene Mutation Absent: Negative

What does this test Hyperargininemia (ARG1) Gene Analysis Test identify?

  • This test identifies mutations in the ARG1 gene, which is responsible for encoding the enzyme arginase-1.
  • Arginase-1 is essential for the urea cycle, which is responsible for the breakdown of ammonia in the body.
  • Mutations in the ARG1 gene can lead to hyperargininemia, a rare genetic disorder characterized by elevated levels of arginine in the blood.
  • Symptoms of hyperargininemia can include developmental delay, intellectual disability, seizures, and liver dysfunction.
  • Early identification of mutations in the ARG1 gene through this test can help in the diagnosis and management of hyperargininemia.

Why is this test Hyperargininemia (ARG1) Gene Analysis Test taken?

  • Hyperargininemia (ARG1) Gene Analysis Test is taken to diagnose and confirm a suspected case of hyperargininemia, which is a rare inherited metabolic disorder.
  • This test is recommended for individuals who have symptoms such as intellectual disability, developmental delay, seizures, and liver problems, which are common in individuals with hyperargininemia.
  • By analyzing the ARG1 gene, this test can identify mutations or variations that may be causing the metabolic disorder, helping in proper diagnosis and management of the condition.
  • Early detection and diagnosis of hyperargininemia through this test can lead to timely interventions and treatment strategies to improve the quality of life for affected individuals.

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