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Parameters

Reports Within:

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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 maximum days for obtaining the report for the test Maple Syrup Urine Disease (MSUD) Gene Panel is 15 business days.

What are the prerequisites for the test Maple Syrup Urine Disease (MSUD) Gene Panel

  • Confirmation of diagnosis of maple syrup urine disease (MSUD) based on clinical presentation and biochemical testing
  • Family history of MSUD
  • Consent for genetic testing
  • Test requisition form with relevant clinical information

What are the measure values for the test Maple Syrup Urine Disease (MSUD) Gene Panel

  • Leucine: 0.5-1.8 mg/dL
  • Isoleucine: 0.2-1.3 mg/dL
  • Valine: 0.5-2.5 mg/dL
  • Alanine: 20-60 mg/dL
  • Glutamine: 500-900 mg/dL
  • Proline: 30-120 mg/dL

What does this test Maple Syrup Urine Disease (MSUD) Gene Panel identify?

The Maple Syrup Urine Disease (MSUD) Gene Panel identifies mutations in genes associated with Maple Syrup Urine Disease (MSUD). MSUD is a rare genetic disorder that affects the body's ability to break down certain amino acids, leading to a buildup of these substances in the blood and urine.

Why is this test Maple Syrup Urine Disease (MSUD) Gene Panel taken?

  • Maple Syrup Urine Disease (MSUD) Gene Panel Test
  • Reasons for taking the test:
    • Confirmation of diagnosis: The test is used to confirm a diagnosis of MSUD in individuals showing symptoms of the disease.
    • Genetic counseling: The test helps in identifying carriers of MSUD gene mutations, which can be important for genetic counseling in families with a history of the disease.
    • Treatment guidance: Results from the test can help in determining the appropriate treatment and management strategies for individuals with MSUD.
    • Family planning: Knowing the genetic status of individuals can aid in making informed decisions about family planning and genetic risk assessment.

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