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Reports Within

Parameters

Reports Within:

Parameter Include:

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 Sialidosis Gene Analysis Test is 14 days.

What are the prerequisites for the test Sialidosis Gene Analysis Test

  • Patient must have symptoms consistent with sialidosis
  • Physician's order for the test
  • Specimen requirements: blood or saliva sample
  • Completed test requisition form
  • Consent form signed by the patient or legal guardian

What are the measure values for the test Sialidosis Gene Analysis Test

Test Name Measure Values
Sialidosis Gene Analysis Test
  • p.N166S
  • p.R118Q
  • p.G391R
  • p.R179H
  • p.T5M
  • p.D314N

What does this test Sialidosis Gene Analysis Test identify?

The Sialidosis Gene Analysis Test is a genetic test that identifies mutations in the NEU1 gene. This gene encodes an enzyme called neuraminidase-1, which plays a crucial role in breaking down a type of sugar molecule called sialic acid. Mutations in the NEU1 gene can lead to the accumulation of sialic acid in the body, causing a rare lysosomal storage disorder known as sialidosis.

By analyzing the NEU1 gene, this test can help diagnose sialidosis and determine the specific genetic mutations responsible for the condition. This information can be used to guide treatment decisions and provide valuable insights into the disease's progression and potential complications.

Why is this test Sialidosis Gene Analysis Test taken?

Why is the Sialidosis Gene Analysis Test taken?

The Sialidosis Gene Analysis Test is taken to diagnose and confirm the presence of sialidosis, a rare genetic disorder caused by mutations in the NEU1 gene, which encodes the enzyme neuraminidase-1. This enzyme is responsible for breaking down a type of sugar molecule called sialic acid in the body.

Individuals with sialidosis have a deficiency in neuraminidase-1, leading to the accumulation of sialic acid in various tissues and organs. This buildup can cause a range of symptoms, including developmental delays, intellectual disability, skeletal abnormalities, and organ dysfunction.

The Sialidosis Gene Analysis Test is used to identify specific mutations in the NEU1 gene that are associated with sialidosis. This information can help healthcare providers make an accurate diagnosis, provide appropriate treatment and management strategies, and offer genetic counseling to affected individuals and their families.

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