Tyrosinemia: Elevated Tyrosine
Test Information
- Titre
-
Tyrosinemia: Elevated Tyrosine
- Catégorie
- 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
- Diagnostics, 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
Dernière Mise à Jour: 09 décembre 2025