Succinylacetone Determination - Urine
Use
This test provides quantitative analysis of succinylacetone in urine, which is used to diagnose tyrosinemia type I. Tyrosinemia type I is associated with pathogenic variants in the FAH gene and is characterized by symptoms such as infantile onset of failure to thrive, jaundice, and gastrointestinal issues. If untreated, it can lead to severe complications like kidney and liver failure, peripheral neuropathy, and rickets. Elevated urine succinylacetone levels indicate tyrosinemia type I.
Special Instructions
Succinylacetone is very labile. Sample must be kept frozen at all times. We require at least 10 ml of urine. Collection can be accomplished by collecting multiple samples and pooling. The pooling sample must be frozen during subsequent collections.
Limitations
Biochemical testing might not detect changes in analytes which would indicate a disease due to limitations of the testing technology or fluctuations in analytes due to diet, medications, or other reasons.
Methodology
Automated Analyzer (Clinical Chemistry)
Biomarkers
Result Turnaround Time
8 days
Related Documents
For more information, please review the documents below
Specimen
Urine
Volume
10 ml
Minimum Volume
Not provided
Container
Insulated container with dry ice
Collection Instructions
Collect random urine. Do not add preservatives. Store specimens frozen at -20°C and ship frozen by overnight courier.
Storage Instructions
Store the specimen frozen at -20°C. Specimen may be stored frozen for up to 7 days.