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Test ID: TYRBS    
Tyrosinemia Follow Up Panel, Blood Spot

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Useful For Suggests clinical disorders or settings where the test may be helpful

Monitoring of individuals with tyrosinemia type I (HT-1)

 

Diagnosis of HT-1 along with urine organic acids (OAU), liver function tests, alpha-fetoprotein, and molecular genetic analysis of the fumarylacetoacetate hydrolase (FAH) gene

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

This test assists in the diagnosis of tyrosinemia type 1 (HT-1) and monitoring of the effectiveness of 2-[2-nitro-4-trifluoromethylbenzoyl]-1,3-cycohexanedione (NTBC; nitisinone) and dietary therapy in patients with HT-1.

Special Instructions Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

Tyrosinemia Follow Up Panel, BS

Aliases Lists additional common names for a test, as an aid in searching

Hereditary tyrosinemia, type I
HT-1
Tyr-1
Tyr type 1
Hepatorenal tyrosinemia
NTBC
Nitisinone