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Test Code U SuAcQnt Succinylacetone Quant, Urine

Clinical System Name

Succinylacetone Quant,  Urine


Quantitative of succinylacetone by stable isotope gas chromatography- mass spectrometry

Sample Requirements

Specimen: Urine

Container(s): Leak-Proof Container, Sterile Screw-Capped Container

Preferred Vol:  10.0 mL

Minimum Vol: 5.0 (See note)


Note:  Minimum volume not defined; the department will determine if quantity is sufficient depending on creatinine concentration.

Processing Instructions

Reject due to:



Temp:-20 C

Storage location: -20 C BCG Box


Off-site collection: Aliquots should be taked from a thoroughly thawed & mixed refrigerated sample.  Ship frozen.


Temperature Time
Room temp ≤24 hrs
Refrigerated <24 hrs
Frozen 3 month



STAT Performed TAT
N M,W,F 3-7 days


Contact the Biochemical Genetics Lab for requests outside of stated availability (206)987-2216.

Performing Laboratory

Seattle Children's Laboratory    


Department:  Biochemical Genetics

Phone Number: 206-987-2216




Method: Gas chromatography/mass spectrometry (GC/MS)

Analytical Volume: 1 mL

Limitations: method sensitivity = 0.2 mcmol/L

CPT Codes



Biochemical Genetics Requisition


On the requisition include clinical inforamtion needed for appropriate interpretation. (Age, gender, diet (e.g. TPN therapy), drug therapy and family history)

Clinical Utility

Succinylacetone and succinylacetoacetate are responsible for the liver and kidney toxicity in patients with tyrosinemia type 1, a rare disease causing progressive liver failure and liver cancer in young children.  Succinylacetone is quantitated in affected patients for diagnosis, and for monitoring Orfadin (NTBC) treatment.

Reference Ranges

0.0 - 1.5 mcmol/L
0.00 - 0.2 mmole/mole Creatinine

98% of Tyrosinemia Type 1 patients with Orfadin levels >  40 mcmol/L have succinylacetone excretion <1.5 mcmol/L and <0.2 mmol/mole creatinine.