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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 the report can be obtained for the test Sphingomyelinase Niemann Pick Disease Test is 21 days.

What are the prerequisites for the test Sphingomyelinase Niemann Pick Disease Test

  • Patient must be at least 1 year old
  • Patient must have symptoms or family history of Niemann Pick Disease
  • Patient must not have taken any medications that could interfere with the test results
  • Patient must have a signed consent form from a healthcare provider

What are the measure values for the test Sphingomyelinase Niemann Pick Disease Test

  • Normal: 40-100 nmol/h/mL
  • Carrier: 20-39 nmol/h/mL
  • Affected: <20 nmol/h/mL

What does this test Sphingomyelinase Niemann Pick Disease Test identify?

The Sphingomyelinase Niemann Pick Disease Test identifies the deficiency of the enzyme sphingomyelinase, which is responsible for breaking down sphingomyelin in cells. This deficiency can lead to the accumulation of sphingomyelin in various tissues, particularly in the liver, spleen, and brain, resulting in Niemann Pick Disease.

Why is this test Sphingomyelinase Niemann Pick Disease Test taken?

  • Reason for Test: The Sphingomyelinase Niemann Pick Disease Test is taken to diagnose Niemann-Pick disease, a rare genetic disorder that affects the body's ability to metabolize lipids. This test measures the activity of the enzyme sphingomyelinase, which is deficient in individuals with Niemann-Pick disease.

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