1671 – Targeted carrier testing for severe monogenic conditions

Page last updated: 10 May 2021

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

Investigative

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)

PICO Confirmation

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Assessment Report

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Public Summary Document

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Meetings for this Application

PASC

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ESC

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MSAC

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