Urine succinylacetone

Clinical Utility:

This selected ion monitoring gas chromatography mass spectrometry (SIM-GCMS) semi-quantitative method for measuring succinylacetone, which is a key metabolite for the diagnosis of tyrosinemia type-1. This test is normally recommended based on the physician’s suspicion of that particular disease plus high blood tyrosine, and serum alpha-fetoprotein. This metabolite is normally not detectable in urine.

Specimen Types:

The most appropriate sample material is a freshly collected random urine sample (2-5 ml; minimum 0.5 ml) in a tube and shipped frozen with dry ice, no preservatives. Frozen urine with coolant pack is acceptable from local hospitals. If sample has to be stored until shipment it should be stored in a –70⁰C freezer.

Turn-around Time:

Routine: 3-7 days from receipt of sample

Stat: 24 hours from receipt of sample

Test Limitations & Interference: None.

Report Format:

The result is given in a one-page report that details the patient information, date of sample, date of analysis and a result code that could be one of three:

"NOT REMARKABLE" "QUESTIONABLE" "ABNORMAL"

Interpretation of questionable or abnormal results will be provided. Recommendation for follow-up samples, or further tests, which are needed for confirmation, will be indicated.