Molecular confirmation of pathological specimen integrity in Australasia

Aim: Investigations into 14 suspected pathology sample identification errors and mix-ups were performed, as a service for several public hospital and private laboratories, from 2005 to 2007. Methods: Analyses were performed with the forensic ABI Identifiler kit of 16 microsatellites 15 autosomal and amelogenin on DNA from paraffin-embedded tissues or blood specimens and compared to independently verified single or multiple patient samples. Results: Of 23 unique patient specimens referred for sample integrity confirmation because of pathologist, clinician or patient concern, six 26.1 were demonstrated to be discordant, indicating that specimen identification errors or mix-ups had occurred. Conclusions: Due to their great sensitivity and high discrimination power, forensic identity multiplex systems using either microsatellites or single nucleotide polymorphisms SNPs can resolve concerns about pathology specimen identity and integrity.