Tyrosinemia: Elevated Tyrosine

Test Information

Title
Tyrosinemia: Elevated Tyrosine
Lab
Category
Metabolic
Test Name (CMS Title)
Tyrosinemia
Gene/Platform/Region List
HPD, TAT
Test type
Samples Accepted
Blood, DNA, Dried Blood Spot (accepted ONLY for exceptional circumstances)
Indications
Diagnosis, Carrier Cascade Testing
Test Methodology
Sequencing
Disease/Condition
Tyrosinemia type II, Richner Hanhart syndrome, TAT deficiency, Tyrosine transaminase deficiency, Keratosis palmoplantaris with corneal dystrophy, Oregon type tyrosinemia, Tyrosinosis oculocutaneous type, Tyrosine aminotransferase deficiency, Oculocutaneous tyrosinemia

Last Updated: November 14, 2025

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