Related Gene(s): FAH

Quantitative urinary succinylacetone analysis is used in diagnosing and monitoring patients with tyrosinemia type I. This work up should also include plasma amino acid analysis and urine organic acids analysis. Succinylacetone analysis is performed by gas chromatography and mass spectrometry (GC/MS) method.

Specimen Requirements

  • Urine: 5-10 mL (random or preferably morning first void) in a clean container without preservatives; freeze. Minimum of 2 mL is required

Ordering Information


  • Ship overnight frozen on dry ice
  • Ship to:
    62 Southfield Ave, Stamford, CT 06902
    Phone: 800-298-6470 / Fax: 646-859-6870


Turnaround Time

  • 5 days



Biochemical Genetic Testing Requisition