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HelpTest Code LAB1964 Succinylacetone Quant, Urine
Clinical System Name
Succinylacetone Quant, Urine
Synonyms
U SuAcQnt
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:
Spin:N
Aliquot:Y
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.
Stability
| Temperature | Time |
|---|---|
| Room temp | ≤24 hrs |
| Refrigerated | <24 hrs |
| Frozen | 3 month |
Availability
| STAT | Performed | TAT |
|---|---|---|
| N | monthly (first week of the month) |
Contact the Biochemical Genetics Lab for requests outside of stated availability (206)987-2216.
Performing Laboratory
Seattle Children's Laboratory
Department
Department: Biochemical Genetics
Phone Number: 206-987-2216
CPT Codes
82542
Methodology
Method: Gas chromatography/mass spectrometry (GC/MS)
Analytical Volume: 1 mL
Limitations: method sensitivity = 0.2 mcmol/L
Description
Quantitative of succinylacetone by stable isotope gas chromatography- mass spectrometry
Requisition
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.