Additional file 1: of Navigating the journey of Aboriginal childhood disability: a qualitative study of carers’ interface with services

Topic guide for interview with parent/carer. (DOCX 13 kb

Syndrome diagnosis with single-nucleotide polymorphism (SNP) microarray

Conventional G-banded karyotypes diagnose about 3% of children who have intellectual disability with or without congenital abnormalities. Fragile X DNA testing diagnoses a further 1%. Karyotypes detect alterations of the number, shape or size of chromosomes of cultured cells by studying them with a microscope. As the cells have to be cultured in the laboratory there is the chance the diagnosis could be influenced by a culture artefact which either removes an abnormal cell population present in the patient, or introduces a new population not present in the patient. For microarray analysis the patient’s DNA is extracted from blood or other tissue without the need for culture of the cells, removing the risk of culture artefact. Chromosomal microarray tests increase the diagnostic rate in developmental disability by about 13%1 and are now first line tests