Human molecular genetics and laboratory microbiology have been revolutionised by the availability of deoxyribonucleic acid (DNA) and ribodeoxynucleic acid (RNA) sequences from humans and microorganisms, and by the development of methods for their detection and characterisation. It is now possible to identify nucleic acid sequences, pathogens and gene mutations rapidly and with a high degree of sensitivity and specificity, through a variety of nucleic acid detection techniques. As a result, these techniques are replacing many conventional laboratory methods such as cell and pathogen culture, immunoassays and protein biochemistry.

The aim of this publication is to provide consensus standards and guidelines for using nucleic acid analysis. It is directed at:

  • laboratories that are either using nucleic acid detection techniques in medical diagnosis, or intending to establish a testing program using these techniques
  • accreditation authorities such as the National Association of Testing Authorities, Australia, so that laboratories using nucleic acid detection techniques may be assessed for compliance.
Other applications, such as testing for paternity, kinship and identity and forensic analysis of samples for use by law enforcement authorities, are not considered in this document. National Pathology Accreditation Advisory Council (NPAAC) accreditation material is designed for the accreditation of pathology laboratories under the Health Insurance Act 1973. Paternity testing is in the province of the Family Law Act 1975. Identity testing and forensic analysis are within the jurisdiction of the various crimes Acts, while kinship testing falls within immigration and inheritance matters. However, many of the principles described here are also applicable to these areas of testing.

This document must be read in conjunction with the following NPAAC documents:
  • Standards for Pathology Laboratories
  • Requirements for Supervision of Pathology Laboratories
  • Guidelines for Quality Systems in Medical Laboratories
  • Retention of Laboratory Records and Diagnostic Material
  • Requirements for the Validation of In-House In-Vitro Diagnostic Devices (IVDs)
  • Guidelines for Cytogenetic Laboratories
and the following international standards:
  • AS ISO/IEC 17025:1999, General requirements for the competence of testing and calibration laboratories
  • ISO 15189:2003, Medical laboratories — Particular requirements for quality and competence.