Biochemical analysis include Quantitation of ALA, and PBG .Urine and faecal Porphyrins by HPLC with separation of isomers. Erythrocyte Protoporphyrins and plasma scans.
Genetic analysis include HMBS, URO-D,CPOX,PPOX and FECH.
The laboratory provides detailed interpretations of these results with expert comments and conclusions.
The laboratory takes part in the Royal College of pathologists of Australasia quality Assurance Programs ( RCPA-EQA), European Porphyria network( EPNET) external quality Assessment scheme (EQAS) and European molecular genetics Quality Network
Clinical: Out-patient and in-patient consultation and clinical liaison with external clinical teams