1680 – Genetic testing for childhood hearing impairment

Page last updated: 02 March 2023

Application Detail

Description of Medical Service

Singleton next generation sequencing of coding regions in clinically affected individuals, including copy number variant analysis of relevant genes. Only genes known to cause hearing impairment are proposed to be analysed. The suggested diagnostic test proposed in the application is agnostic of technology, and hence it is not prescriptive to the methodologies/equipment and reagents involved. The proposed test has been referred to as whole exome analysis (WEA) by the application, as investigation is proposed to be limited to the coding regions of the genome.

Description of Medical Condition

Childhood hearing impairment is the most common condition of all those included in newborn screening. It has a genetic bases in more than 50% of cases. The genetic causes are highly variable with >100 genes currently implicated in childhood onset hearing impairment. Congenital or childhood onset deafness, although most frequently isolated, can be the first sign of more complex medical problems and syndromes making molecular diagnosis of these conditions well suited to next generation sequencing. Early understanding of the aetiology of a child’s hearing impairment is claimed to guide intervention and service use, streamlining care and maximising a child’s communication and developmental potential.

Reason for Application

New MBS item

Medical Service Type

Investigative technology

Previous Application Number/s

Not Applicable

Associated Documentation

Application Form

Application Form (PDF 1299 KB)
Application Form (Word 111 KB)

Consultation Survey

Consultation Survey (PDF 689 KB)
Consultation Survey (Word 72 KB)

PASC Consultation
PASC consultation closed

MSAC Consultation
MSAC consultation input closed Friday, 7 October 2022.

For further information please refer to PASC, ESC, MSAC Key Dates
For further information on the consultation process please refer to MSAC Consultation Process

PICO Confirmation

PICO Confirmation (PDF 1191 KB)
PICO Confirmation (Word 620 KB)

Assessment Report


Public Summary Document

Public Summary Document (PDF 685 KB)
Public Summary Document (Word 170 KB)

Meetings for this Application


9-10 December 2021


6-7 October 2022


24-25 November 2022