Genetic Test Details

Tyrosinemia: Elevated Tyrosine

Test Information

Titre
Tyrosinemia: Elevated Tyrosine
Catégorie
Metabolic
Sub Category
Tyrosinemia
Gene/Platform/Region List
HPD, TAT
Test type
Gene Panel
Samples Accepted
DNA , Blood , Dried Blood Spot (accepted ONLY for exceptional circumstances)
Indications
Carrier Cascade Testing , Diagnosis
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: 18 juin 2025