Methodology
Liquid Chromatography Tandem Mass Spectrometry (LC-MS/MS)
Performing Lab
Mayo Medical Laboratory
Lab Test Days
Mon thru Friday
Standard TAT
3 to 5 days
Collection Information
Processing Information - Lab Use Only
Included Tests
Tyrosine, Phenylalanine, Methionine, Succinylacetone, Nitisinone
Comments
Useful for monitoring of individuals with tyrosinemia type 1. Diagnosis of HT-1 when used in conjunction with testing for urine organic acids, liver function, alpha-fetoprotein, and molecular genetic analysis of the fumarylacetoacetate hydrolase (FAH) gene. 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. Not genetic, does not require auth.
CPT Codes
84510, 84030, 82542, 80299, 82542