Tyrosinemia: Elevated Tyrosine
| Test Information | |
|---|---|
| Test Name | Tyrosinemia: Elevated Tyrosine |
| Lab (Location) | Newborn Screening Ontario |
| Category | Metabolic |
| Subcategory | Tyrosinemia |
| Gene/Platform/Region List | HPD, TAT |
| Test type | Gene Panel |
| Samples Accepted | Blood, DNA, Dried Blood Spot (accepted ONLY for exceptional circumstances) |
| Indications Diagnosis | Diagnosis, Carrier / Cascade Testing |
| Test Methodology | Sequencing |
| Diseases/Conditions | 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 |