1476 - Genetic testing for childhood syndromes

Page last updated: 17 October 2018

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


Assessment Report


Public Summary Document

Public Summary Document (PDF 520 KB)
Public Summary Document (Word 151 KB)

Meetings for this Application


12 April 2017


8 June 2018


26-27 July 2018