Web: | mayocliniclabs.com |
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Email: | mcl@mayo.edu |
Telephone: | 800-533-1710 |
International: | +1 855-379-3115 |
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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
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.
Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)