Referrals

Referrals received between December 2013 and October 2019 were processed at the Molecular Genetics Laboratory of the Children’s Hospital at Westmead (Sydney, NSW, Australia). Referral requirements were as previously described⁵, including the isolated DNA sample of the patient from the referring institution, details of the panel requested, working diagnosis, relevant clinical data, and completed clinical genetic testing consent forms. Referral was open to all doctors throughout Australia and New Zealand and advertised to nephrologists and geneticists. All referrals were reviewed to confirm minimum information provision and suitability. Panel results were returned to the referring clinician complete with variant interpretation. Patient data was reanalyzed upon request. Segregation testing of any variants identified in other family members was carried out using Sanger sequencing as per standard laboratory protocols.