Louise Carey¹, Angela Brown², Mahony Fenn³, Jodie Fitness⁴, Chris Joy⁵, Elsa Parker⁶, Dale Wright^7,8 on behalf of the Australasian Society of Diagnostic Genomics, a special interest group of the Human Genetics Society of Australasia

¹NSW Health Pathology, St Leonards, NSW, Australia; ²Capital and Coast District Health Board, Wellington, New Zealand; ³Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, WA, Australia; ⁴Genomic Diagnostics, Healius Pathology, Brisbane, QLD, Australia; ⁵Sullivan Nicolaides Pathology, Cytogenetics, Brisbane, QLD, Australia; ⁶Canterbury Health Laboratories, Christchurch, New Zealand; ⁷Sydney Genome Diagnostics, Cytogenetics, The Children’s Hospital at Westmead, Westmead, NSW, Australia

Australasian Society of Diagnostic Genomics (ASDG) is a special interest group of the Human Genetics Society of Australasia (HGSA). The ASDG was formed in March 2015, following the merger of the Australasian Society of Cytogeneticists (ASoC) and the Molecular Genetics Society of Australasia (MGSA). The ASDG represents over 300 members across Australasia with the aim to promote the interests of those working in the diagnostic genomics field.  

Best practice guidelines have been prepared by a working group consisting of expert cytogeneticists on behalf of the ASDG in relation to the use of karyotyping and FISH in Australasian laboratories.   This work was undertaken in response to the removal of key cytogenetics content from the Australian Commission on Safety and Quality in Health Care (ACSQHC), Requirements for Medical Testing for Human Genetic Variation^1, , which is a consolidation of Requirements for medical testing of human nucleic acids (2013) and Requirements for cytogenetic testing (2013). 

Guidance has been provided in several key areas: Personnel, Specimens and referral types, chromosome analysis, Fluorescence in situ hybridisation, Laboratory performance and Reporting.  

All authors contributed equally to this work.