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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 for obtaining a report for the Tyrosinemia Gene Panel test is typically 10-14 business days from the date of sample collection.

What are the prerequisites for the test Tyrosinemia Gene Panel

  • Patients must have a suspected or confirmed diagnosis of tyrosinemia
  • Patients must have a clinical presentation consistent with tyrosinemia
  • Patients must have a referral from a qualified healthcare provider

What are the measure values for the test Tyrosinemia Gene Panel

Gene Measure Value
FAH 0 - 9
HPD 0 - 7
TAT 0 - 8
TYR 0 - 6

What does this test Tyrosinemia Gene Panel identify?

  • This test identifies mutations in the genes associated with Tyrosinemia, a rare genetic disorder that affects the body's ability to break down the amino acid tyrosine.
  • The gene panel includes analysis of the FAH, HPD, and TAT genes, which are known to be involved in different forms of Tyrosinemia.
  • Identification of mutations in these genes can help in confirming a diagnosis of Tyrosinemia and guiding treatment decisions.

Why is this test Tyrosinemia Gene Panel taken?

This test is taken to diagnose a rare genetic disorder called Tyrosinemia. Tyrosinemia is a metabolic disorder that disrupts the body's ability to break down the amino acid tyrosine. This can lead to a buildup of toxic substances in the body, causing serious health problems.

The Tyrosinemia Gene Panel is used to identify mutations in genes that are associated with different types of Tyrosinemia, including Type I, Type II, and Type III. By analyzing these genes, healthcare providers can determine the specific type of Tyrosinemia a patient has, which can help guide treatment decisions and management of the condition.

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