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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 Galactosemia Gene Panel is 14 days.

What are the prerequisites for the test Galactosemia Gene Panel

  • Confirmation of diagnosis of galactosemia
  • Family history of galactosemia
  • Clinical suspicion of galactosemia

What are the measure values for the test Galactosemia Gene Panel

Gene Measure Value
GALT 0-2 variants detected: Negative for galactosemia
GALT 3 variants detected: Carrier for galactosemia
GALT 4 or more variants detected: Positive for galactosemia

What does this test Galactosemia Gene Panel identify?

  • The Galactosemia Gene Panel is a genetic test that identifies mutations in genes associated with galactosemia, a rare genetic disorder that impairs the body's ability to metabolize galactose, a type of sugar found in milk and dairy products.
  • This test specifically looks for mutations in the GALT, GALK1, and GALE genes, which are responsible for encoding enzymes involved in the breakdown of galactose.
  • Identifying mutations in these genes can help diagnose galactosemia and determine the appropriate treatment and management strategies for affected individuals.

Why is this test Galactosemia Gene Panel taken?

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The Galactosemia Gene Panel test is taken to diagnose galactosemia, an inherited metabolic disorder that affects the body's ability to break down galactose, a sugar found in milk and dairy products. This test looks for mutations in genes that are responsible for the enzymes needed to process galactose.

Galactosemia can lead to serious health problems if not managed properly, including liver damage, cataracts, and intellectual disabilities. Early detection through genetic testing can help in implementing dietary restrictions and other treatments to prevent these complications.

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