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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 Phenylketonuria (PAH) Gene Analysis Test is typically 10-14 business days from the date of sample collection.

What are the prerequisites for the test Phenylketonuria (PAH) Gene Analysis Test

  • Patients must have symptoms of phenylketonuria or a family history of the condition
  • Patient must be able to provide a blood sample for testing
  • Patient must not have consumed any phenylalanine supplements or medications that may interfere with the test results
  • Patient must not have any underlying medical conditions that may affect the accuracy of the test

What are the measure values for the test Phenylketonuria (PAH) Gene Analysis Test

  • Test Name: Phenylketonuria (PAH) Gene Analysis Test
  • Measures:
    • PAH gene mutations
    • Phenylalanine levels in blood
    • Enzyme activity levels

What does this test Phenylketonuria (PAH) Gene Analysis Test identify?

Phenylketonuria (PAH) Gene Analysis Test

The Phenylketonuria (PAH) Gene Analysis Test is a genetic test that identifies mutations in the PAH gene. This gene provides instructions for making an enzyme called phenylalanine hydroxylase, which is responsible for breaking down the amino acid phenylalanine. Mutations in the PAH gene can lead to a deficiency in this enzyme, causing phenylalanine to build up to harmful levels in the body.

This test is used to diagnose phenylketonuria (PKU), a rare genetic disorder that affects the body's ability to process phenylalanine. PKU can lead to intellectual disability, developmental delays, and other serious health problems if left untreated. Identifying mutations in the PAH gene through this test can help healthcare providers determine the appropriate treatment and management strategies for individuals with PKU.

Why is this test Phenylketonuria (PAH) Gene Analysis Test taken?

Phenylketonuria (PAH) Gene Analysis Test is taken to diagnose phenylketonuria, a genetic disorder that causes a buildup of the amino acid phenylalanine in the body. This test is used to detect mutations in the PAH gene, which is responsible for producing an enzyme called phenylalanine hydroxylase. Mutations in this gene can lead to a deficiency of this enzyme, resulting in the inability to break down phenylalanine properly.

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