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Test Code U SuAcQnt Succinylacetone Quant, Urine

Clinical System Name

Succinylacetone Quant,  Urine

Description

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:

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 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

Department:  Biochemical Genetics

Phone Number: 206-987-2216

 

 

Methodology

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

Analytical Volume: 1 mL

Limitations: method sensitivity = 0.2 mcmol/L

CPT Codes

82543

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.