Tyrosinemia: Elevated Succinylacetone

Test Information

Title
Tyrosinemia: Elevated Succinylacetone
Lab
Category
Metabolic
Test Name (CMS Title)
Tyrosinemia
Gene/Platform/Region List
FAH, GSTZ1
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 1, FAH deficiency fumarylacetoacetase deficiency fumarylacetoacetate hydrolase deficiency hepatorenal tyrosinemia hereditary tyrosinemia type 1

Last Updated: November 14, 2025

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