Genomic testing for paediatricians

This page supports Australian paediatricians to learn about and arrange Medicare-funded genomic tests for eligible children in whom they suspect a childhood syndrome.

What do you need?

About Medicare funded genomic testing

Medicare funded genomic testing for MBS items 73358 and 73359 covers whole exome sequencing and whole genome sequencing for children prior to their 11th birthday, when a monogenic condition is suspected. This testing can include the child alone (singleton) or the child and their biological parents (trio).

If your patient does not meet criteria for Medicare funded genomic testing under the childhood syndromes item numbers 73358 and 73359, genetic testing may still be appropriate. Your local genetics service can guide you further.

The information on this page has been curated to help paediatricians order funded genomic testing. If you are a parent, family member or carer and you would like to find out more about genomic testing, please refer to these patient, family and carer resources.

This webpage is a Melbourne Genomics project which aims to support paediatricians ordering funded genomic tests. You can learn more about the project here

These materials were prepared by the Melbourne Genomics Health Alliance (MGHA) and are protected by copyright. We would like to acknowledge the contribution of knowledge and expertise from Alliance members in the development of these materials. Reproduction or distribution of these materials without the express written permission of MGHA is prohibited. © MGHA 2022. All rights reserved. 

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Melbourne Genomics acknowledges the Wurundjeri people of the Kulin Nation, on whose lands we work, and all First Nations peoples across Victoria. We pay respect to Elders past and present. We also acknowledge the First Nations health professionals, researchers and leaders who are shaping the future of genomic medicine.

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