How to Complete the NSW Health Pathology Exome & Genome Test Request Form

Demystifying the NSW Health Pathology Request Form

Ordering comprehensive genomic testing involves navigating specific clinical criteria. The NSW Health Pathology Exome/Genome Test Request Form is the standardized medical document used to order Whole Exome Sequencing (WES) or Whole Genome Sequencing (WGS) for patients in New South Wales. Samples and forms are directed to either the Department of Molecular Genetics at the Children's Hospital Westmead or the NSWHP Genomics Laboratory at Prince of Wales Hospital, Randwick. Correctly completing this form is critical for ensuring rapid turnaround times and securing Medicare Benefits Schedule (MBS) funding.

Medicare (MBS) Eligibility Criteria

One of the most important sections of this form dictates whether the expensive genomic test can be bulk-billed. To be eligible for MBS funding, the patient must meet all of the following strict criteria:

• Age & Diagnosis: The patient must be 10 years old or younger and assessed as likely to have a monogenic (single-gene) condition.
• Previous Testing: The patient must not have had a previous whole exome or genome test, and their prior Microarray test must be reported as non-informative.
• Clinical Features: They must present with a dysmorphic facial appearance and one or more major structural congenital anomalies. Alternatively, they must have an intellectual disability or global developmental delay of at least moderate severity, as determined by a specialist paediatrician.
• Referral Source: The request must be formally referred by a Clinical Geneticist, or a Paediatrician working in direct consultation with a Clinical Geneticist.

Choosing the Right Test Type

The request form allows clinicians to select from a variety of testing structures based on family availability and prior history:

• Singleton vs. Trio Exome: "Trio" testing analyzes the DNA of the child alongside both biological parents, which dramatically increases the diagnostic yield. The form specifies that both parents must be available for a Trio test to proceed.
• Data Re-analysis: This option is available for previously tested patients aged 15 years or younger who have a suspected monogenic condition but whose initial results were inconclusive.

Specimen Collection Options

The laboratories are well-equipped to handle various sample types. While standard EDTA blood draws (2 x 2mls recommended) or pre-extracted DNA are standard, buccal (cheek) swabs can also be used. However, buccal swabs must be organized by prior arrangement with the laboratory.