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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 Fucosidosis Gene Analysis Test is 14 days.

What are the prerequisites for the test Fucosidosis Gene Analysis Test

  • Confirmation of clinical diagnosis of Fucosidosis
  • Physician's order
  • Completed test requisition form
  • Specimen: Blood sample in EDTA tube
  • Proper specimen labeling with patient's full name and date of birth
  • Specimen storage and transportation according to laboratory guidelines

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

  • Measurement: Fucosidosis Gene Analysis Test
  • Normal Range: Negative for fucosidosis gene mutation
  • Abnormal Range: Positive for fucosidosis gene mutation

What does this test Fucosidosis Gene Analysis Test identify?

  • The Fucosidosis Gene Analysis Test identifies mutations in the FUCA1 gene, which is responsible for encoding the enzyme alpha-L-fucosidase.
  • Deficiency in this enzyme leads to the accumulation of fucose-containing glycolipids and glycoproteins in various tissues and organs.
  • Individuals with Fucosidosis may exhibit symptoms such as developmental delay, intellectual disability, coarse facial features, skeletal abnormalities, and organ enlargement.
  • Early detection through genetic testing can help in the management and treatment of Fucosidosis.

Why is this test Fucosidosis Gene Analysis Test taken?

Why is the Fucosidosis Gene Analysis Test taken?

The Fucosidosis Gene Analysis Test is taken to diagnose fucosidosis, a rare inherited disorder that affects the breakdown and recycling of certain molecules in the body. Fucosidosis is caused by mutations in the FUCA1 gene, which is responsible for producing an enzyme called alpha-L-fucosidase.

Individuals with fucosidosis lack this enzyme or have a non-functioning version of it, leading to the buildup of certain substances in various tissues and organs. This can result in a range of symptoms, including developmental delay, intellectual disability, abnormal facial features, seizures, and liver and spleen enlargement.

The Fucosidosis Gene Analysis Test helps in identifying mutations in the FUCA1 gene, confirming a diagnosis of fucosidosis, and determining the genetic risk of passing on the condition to future generations. It is typically recommended when a healthcare provider suspects fucosidosis based on clinical symptoms and family history.

Early diagnosis through genetic testing can help in managing the symptoms of fucosidosis, providing appropriate medical care, and offering genetic counseling to affected individuals and their families.

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