Metabolite diagnostics

The metabolic unit is specialised in high-quality metabolite diagnostics in blood, urine, CSF and amniotic fluid for diagnosing and therapy control of inborn errors of metabolism. For many assays and disorders we play a role as reference laboratory. For more information about collecting and sending samples, see Directions for collecting and sending samples. Ship samples on dry ice with a complete request form. An overview of the metabolites we measure can be found here

Turnaround time (TAT)

Prenatal diagnostics: 1 week
Postnatal diagnostics: maximum of 5 weeks except for GABA,BALA,SAM/SAH and NAAG with a TAT of 2 months. For more information about the TAT, see specific metabolite frequency of analysis and add one week.