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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 Neurodegeneration With Brain Iron Accumulation Gene Panel is 14 days.

What are the prerequisites for the test Neurodegeneration With Brain Iron Accumulation Gene Panel

  • Requisition form properly filled
  • Minimum 3mL whole blood in purple top EDTA tube
  • Specimen should be refrigerated and received within 72 hours
  • Provide clinical history and pedigree
  • Consent form signed by the patient or legal guardian

What are the measure values for the test Neurodegeneration With Brain Iron Accumulation Gene Panel

  • ATP13A2 gene: Mutations detected or not detected
  • C19orf12 gene: Mutations detected or not detected
  • COASY gene: Mutations detected or not detected
  • CP gene: Mutations detected or not detected
  • FA2H gene: Mutations detected or not detected
  • FAM126A gene: Mutations detected or not detected
  • PLA2G6 gene: Mutations detected or not detected
  • WDR45 gene: Mutations detected or not detected

What does this test Neurodegeneration With Brain Iron Accumulation Gene Panel identify?

Neurodegeneration With Brain Iron Accumulation Gene Panel

The Neurodegeneration With Brain Iron Accumulation Gene Panel is a genetic test that identifies mutations in specific genes associated with neurodegenerative disorders characterized by abnormal accumulation of iron in the brain. These disorders include:

  • Pantothenate Kinase-Associated Neurodegeneration (PKAN): caused by mutations in the PANK2 gene
  • Neuroferritinopathy: caused by mutations in the FTL gene
  • Aceruloplasminemia: caused by mutations in the CP gene
  • Woodhouse-Sakati Syndrome: caused by mutations in the DCAF17 gene

Identifying mutations in these genes can help healthcare providers diagnose and manage these neurodegenerative disorders, providing valuable information for personalized treatment and genetic counseling.

Why is this test Neurodegeneration With Brain Iron Accumulation Gene Panel taken?

  • Neurodegeneration With Brain Iron Accumulation Gene Panel Test
  • Reasons for taking the test:
    • To diagnose Neurodegeneration with Brain Iron Accumulation (NBIA), a group of rare genetic disorders characterized by abnormal iron accumulation in the brain.
    • To identify specific genetic mutations associated with NBIA, which can help in determining the appropriate treatment and management strategies.
    • To assess the risk of passing on the genetic mutation to offspring, especially in families with a history of NBIA.
    • To confirm a suspected diagnosis of NBIA based on clinical symptoms and imaging studies.
    • To provide genetic counseling and guidance for affected individuals and their families.

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