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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 Niemann-Pick Disease Gene Panel is 21 days.

What are the prerequisites for the test Niemann-Pick Disease Gene Panel

  • Patients must have clinical symptoms consistent with Niemann-Pick disease
  • Patients must have a family history of Niemann-Pick disease
  • Patients must have a physician's referral for genetic testing
  • Patients must have informed consent for genetic testing

What are the measure values for the test Niemann-Pick Disease Gene Panel

  • Gene Panel: Niemann-Pick Disease
  • Measure Values:
    • Niemann-Pick Disease Type A (ASAH1) - 0.1%
    • Niemann-Pick Disease Type A/B (SMPD1) - 0.2%
    • Niemann-Pick Disease Type C1 (NPC1) - 0.3%
    • Niemann-Pick Disease Type C2 (NPC2) - 0.4%

What does this test Niemann-Pick Disease Gene Panel identify?

  • The Niemann-Pick Disease Gene Panel identifies mutations in genes associated with Niemann-Pick Disease, a rare genetic disorder that affects lipid metabolism.
  • Specifically, this panel tests for mutations in the NPC1 and NPC2 genes, which are involved in the transport and metabolism of lipids within cells.
  • Identifying mutations in these genes can help diagnose Niemann-Pick Disease and guide treatment decisions for affected individuals.

Why is this test Niemann-Pick Disease Gene Panel taken?

The Niemann-Pick Disease Gene Panel test is taken to diagnose or confirm a suspected case of Niemann-Pick disease. Niemann-Pick disease is a group of rare genetic disorders that affect the body's ability to metabolize lipids, leading to the accumulation of harmful levels of lipids in various tissues and organs.

This test specifically looks for mutations in genes associated with Niemann-Pick disease, such as NPC1 and NPC2. Identifying these mutations can help healthcare providers determine the type of Niemann-Pick disease a person has, as well as provide information on disease severity and potential treatment options.

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