Tyrosinemia: Elevated Succinylacetone
| Test Information | |
|---|---|
| Test Name | Tyrosinemia: Elevated Succinylacetone |
| Lab (Location) | Newborn Screening Ontario |
| Category | Metabolic |
| Subcategory | Tyrosinemia |
| Gene/Platform/Region List | FAH, GSTZ1 |
| 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 1, FAH deficiency fumarylacetoacetase deficiency fumarylacetoacetate hydrolase deficiency hepatorenal tyrosinemia hereditary tyrosinemia type 1 |