Genetic Test Details

Tyrosinemia: Elevated Succinylacetone

Test Information

Title
Tyrosinemia: Elevated Succinylacetone
Category
Metabolic
Sub Category
Tyrosinemia
Gene/Platform/Region List
FAH, GSTZ1
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 1, FAH deficiency fumarylacetoacetase deficiency fumarylacetoacetate hydrolase deficiency hepatorenal tyrosinemia hereditary tyrosinemia type 1

Last Updated: June 23, 2025