1.1Confirm Medicare Eligibility

1. Child is aged 10 years and 364 days or younger. Has; Dysmorphic facial features and one or more major structural congenital abnormalities OR Intellectual disability or Global developmental delay of at least moderate severity.

1.2Confirm non-informative CMA

Ensure a non-informative chromosomal microarray (CMA) under MBS item 73292 has been completed. This is a requirement for the Medicare item numbers 73358 and 73359.

1.3Other Investigations (Recommended)

Fragile X testing and urine metabolic screening are also desirable before proceeding. It's also useful to check that no other genetic testing has been previously ordered or completed for this patient as that may determine a different more targeted genetic test.

1.4Take a Three-Generation Family History

Construct a pedigree documenting relevant diagnoses, unexplained conditions, and family structure across three generations. This will be required on the test request form as it is critical for analysis and interpretation of results

2.1Consult Clinical Geneticist

To order a genomic test under medicare item number 73358 and 73359 a discussion with a clinical geneticist is required. The wording of the MBS item number does not specify which format this consult needs to take, therefore the format is dependent on the genetics service. Regardless of the format, written evidence of the consultation should be submitted to the laboratory with the test request and patient consent forms, to ensure claims are not rejected because they do not meet the requirements of the Medicare Item number.

2.2Discuss Genomic Testing and Considerations

This is the beginning of the consent conversations. Once you have consulted with the clinical geneticist and agreed upon the test; Have the discussion with the patient and their family (if ordering a trio test) about what the test is, what it looks for, flag the possible results and that they may withdraw consent at anytime

2.3Obtain Informed Consent

Obtain written informed consent from the patient and parents (if ordering trio testing). Use the consent form to guide the consultation making sure to cover; implications for insurance, impact on relatives, unexpected family relationships from trio testing, data storage, limitations of the test, right to withdraw consent, and optional sample sharing for research.

2.4Agree on Results Communication

After ensuring all consent forms are signed (including for parents if completing trio testing) have a conversation with the family about how you will communicate the results of the genomic test. Remind them that it may take up to 6 months for results to come through.

3.1Prepare to Request Test

Before starting the order (as some are completed online within portals) ensure you have the following information ready: - Practitioner and clinic details, including email for reports - Patient details including date of birth and Medicare number - Parent details (if trio), including date of birth, Medicare number, and clinical information - Clinical details including dysmorphic features, congenital abnormalities, measurements such as head circumference, height and weight, confirmed severity of global developmental delay or intellectual disability. - Chromosomal microarray results and other previous testing like fragile X and urine metabolic screening - Family history/ pedigree for three generations. - Signed genomic consent forms (x3 if trio)

3.2Order Test

Place order with Pathology service- see links for state based services. Specify the type of sample -consider whether EDTA blood or saliva is more suitable for your patient. Ensure your contact details are correct for results report.

4.1Review the Genomic Report

Read the report carefully before contacting the family. If uncertain about the result, variant classification, or next steps, contact the clinical geneticist who was involved in the confirmatory consult or the reporting laboratory for guidance.

4.2Disclose Results to the Patient/Family

Based on the previously agreed upon consultation format — communicate the findings of the genomic test. Allocate adequate time and have a printed copy of the report and any additional relevant resources ready.

4.3Provide Condition-Specific Resources

Depending on the type of results - there are groups and resources in the links that may be helpful. Alternatively the Patient and Family may benefit from Genetic counselling at this point in time.

4.4Consider Reanalysis if Result Is Uninformative

If no pathogenic variant is identified, advise the family that reanalysis of existing data can be requested at least 18 months after the initial test, up to twice across the patient's lifetime up to age 15. This is also covered by a Medicare Item number 73360