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Additional resources

…the community, www.genomicsengland.co.uk/understanding-genomics NSW Health Centre for Genetics Education also houses fact sheets on genetic and genomic testing directed at patients, www.genetics.edu.au For more information on genetic testing and support…

Identify Patient

…you suspect the cause of their condition is a genetic variant type that is best identified by an alternative test type (e.g., a triplet repeat, a chromosome deletion or aneuploidy)….

Pre-test counselling and informed consent

“Patients…often overestimate the quantity, utility, and certainty of information…provided through genomic sequencing. Such unrealistic expectations are fueled by…presentation of the test as the most comprehensive…available”. Tibben, A., & Biesecker, B….

Exome Sequencing

Approximate time required for this test: 3-6 Months (standard), 1 week (Rapid), 3 days (Ultra rapid)

Genome Sequencing

Approximate time required for this test: 3-6 Months (standard), 1 week (Rapid), 3 days (Ultra rapid)

NGS / Multigene Panel

Approximate time required for this test: 12 weeks