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Test ID: TYRSC    
Tyrosinemia Follow-Up Panel, Self-Collect, 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 (hepatorenal tyrosinemia)

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

This test is intended for therapeutic monitoring of 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cycohexanedione (NTBC; nitisinone) and dietin patients with tyrosinemia type 1 (HT-1).

Highlights

Blood spot specimens for this test are self-collected by the patient to send directly to Mayo Clinic Laboratories via supplied collection kit. For more information, see Specimen Required.

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, SC, BS

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

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