Molecular confirmation of pathological specimen integrity in Australasia

SummaryAimInvestigations 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.MethodsAnalyses 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.ResultsOf 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.ConclusionsDue 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.