1671 – Targeted carrier testing for severe monogenic conditions

Page last updated: 31 October 2022

Application Detail

Description of Medical Service

Testing of asymptomatic individuals of reproductive age, pregnant females (as well as their male reproductive partner) for the presence of a pathogenic heterozygous variant(s) for a clinically significant monogenic disorder in order to ascertain their genetic carrier status, in a panel of genes that would include testing for cystic fibrosis, spinal muscular atrophy and fragile X syndrome.

Description of Medical Condition

Tested individuals must have a >10% a priori aggregate personal risk of being a heterozygous genetic carrier of a clinically significant disorder associated with pathogenic or likely pathogenic variants of the genes in the testing panel. The genes included in the panel will depend on the patient’s family history and ethnic heritage/risk, drawn from published, publicly accessible lists of pathogenic genetic variants and associated disorders. Additionally it is requested that cascade testing should be offered to first-degree biological relatives of those found to be a carrier of a recessive pathogenic variant.

Reason for Application

New MBS item

Medical Service Type


Previous Application Number/s

Not Applicable

Associated Documentation

Application Form

Application Form (PDF 1383 KB)
Application Form (Word 355 KB)

Consultation Survey

Consultation Survey (PDF 583 KB)
Consultation Survey (Word 68 KB)

PASC Consultation
PASC consultation closed

MSAC Consultation
MSAC consultation closed Friday, 10 June 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 1667 KB)
PICO Confirmation (Word 800 KB)

Assessment Report


Public Summary Document

Public Summary Document (PDF 806 KB)
Public Summary Document (Word 221 KB)

Meetings for this Application


12-13 August 2021


9-10 June 2022


28-29 July 2022