Fig. 1: Clinical pipeline.

a Clinical workflow. PCR Polymerase chain reaction. Referral received by clinical co-ordinator (nurse, LO) at Motor Speech Disorders Clinic. Triage by nurse (LO) and speech pathologist (AM). Proband seen by speech pathologist (AM, ML, CB, AG) to confirm speech motor disorder. Medical work-up by paediatrician and clinical geneticist (DA, dual-qualified). Psychologists (EB, CB) determined IQ status at the further appointment. A genetic counsellor (ML) or a clinical geneticist (DA) performed pre-test genetic counselling and genetic consent. Saliva samples for chromosomal microarray and exome sequencing were collected using paediatric. Oracollect kits from DNAGenotek. Clinically accredited genomic sequencing was performed at the Victorian Clinical Genetics Service, including: initial computational bioinformatics analysis; meeting to prioritise variants for assessment attended by senior medical genomic scientists, clinical geneticists, and genetic counsellors; variant curation as per American College of Medical Genetics and Genomics guidelines. Next, a review of variant and phenotypic data was undertaken by a multidisciplinary speech clinic team, with laboratory scientists, clinical geneticists and genetic counsellors independent to the speech clinic, to reach consensus and ensure genotype concordant with phenotype prior to reporting. Proband attended further clinic appointment (in-person or telehealth) for the return of results with post-test genetic counselling and segregation encouraged where appropriate. b Flowchart of recruitment and genetic results. CNV Copy number variant; *Monogenic findings include single nucleotide variants (SNVs) and intragenic deletions.