1476 - Genetic testing for childhood syndromes

Page last updated: 24 November 2021

Application Detail



Description of Medical Service

Next generation sequencing of coding regions in clinically affected individuals.
While next generation sequencing has the ability to investigate all genes in the one test, only genes known to cause these syndromes will be analysed. A phenotype-driven list of candidate genes should be prioritised for analysis, followed by a broader scan of all other known genes with clinical evidence indicating possible involvement in the affected individual’s condition.

Description of Medical Condition

Children (<18 years) with the onset of clinical features/symptoms indicating a syndromic disorder in the first year of life, including a minimum of 2 of the 3 following indications: multiple congenital anomalies and/or dysmorphic facial features and/or moderate to profound cognitive impairment.

Reason for Application

New MBS item

Medical Service Type

Investigative medical service

Previous Application Number

Not Applicable

Associated Documentation

Application Form

Application Form (PDF 276 KB)
Application Form (Word 564 KB)

PICO Confirmation

PICO Confirmation (PDF 1075 KB)
PICO Confirmation (Word 164 KB)

Assessment Report


Public Summary Document

Public Summary Document - updated (PDF 1562 KB)
Public Summary Document - updated (Word 155 KB)

Meetings for this Application


12 April 2017


8 June 2018


26-27 July 2018
22-23 November 2018
1-2 August 2019

Stakeholder Meeting

Friday 19 October 2018, members of MSAC, clinical geneticists, genetic counsellors, clinicians with experience in managing children with congenital conditions, pathology providers, representatives of relevant consumer organisations, representatives from the Murdoch Children’s Research Institute, and the Department of Health met to discuss Genetic Testing for Childhood Syndromes. This was not an MSAC decision forum, but a meeting that would inform the issues considered by MSAC, following its July 2018 consideration of application 1476. The final minutes of this meeting are below.

Final Stakeholder Meeting Minutes (PDF 136 KB)
Final Stakeholder Meeting Minutes (Word 114 KB)