What is it?

When a child has health or developmental concerns, families often want to know whether there is an underlying genetic cause.

For Preciselee Trio, we sequence the exomes of the child and both biological parents. The exome is the part of a person's DNA that provides instructions for making proteins. By comparing the three results, we can identify the most likely genetic variants that may explain the child's condition. We will not routinely report variants in the child or the parents that appear unrelated to the patient's condition.

The aim of Preciselee Trio is to provide clearer answers where possible, support medical care, and help families understand what the result may mean for the child and for future family planning.

Who is it for?

Preciselee Trio is usually requested by a specialist medical practitioner, such as a clinical geneticist, paediatrician, neurologist, or other relevant specialist.

Preciselee Trio may be suitable for:

• Children with health, developmental, or medical concerns where a genetic cause is suspected. It may be particularly useful when a child has features affecting more than one body system, or when the diagnosis is not clear from clinical assessment alone.

• Children who have had previous testing that did not provide an answer. Trio exome sequencing may be considered when earlier tests, such as chromosome analysis, microarray, single gene testing, or gene panels, have not identified a cause.

What does it include?

• Diagnostic Testing

This is the main result. It focuses on variants that may explain the child’s condition, based on the clinical information provided by the requesting specialist.

As part of the same testing process, parents may also choose to receive additional genetic screening results for themselves. These optional screens are separate from the child’s diagnostic testing result.

• (Optional) Expanded Carrier Screen for one or both parents

This checks for more than 1,400 genetic conditions that can affect a child's health.

• (Optional) Personal Genetic Screen for one or both parents

This checks for more than 80 genetic conditions that may affect a parent's own health and may also be passed onto their children.

Link to a list of the genes included in these tests

NOTE: Preciselee Trio does NOT include SMN1 (spinal muscular atrophy) and FMR1 (fragile X syndrome). Screening of these genes is available as Medicare-funded tests through other laboratories.

How much does it cost?

$2200, which includes:

• Diagnostic Testing

• Optional Expanded Carrier Screen for one or both parents

• Optional Personal Genetic Screen for one or both parents

There is no additional charge for the optional parental screens if selected.

How do I get tested?

To proceed with Preciselee Trio, we will need:

1. A completed request form

2. Parents to complete our online consent module for optional parental screening, if selected

   This explains the purpose of the optional parental screen(s), what it can and cannot detect, and the types of results patients may receive. We then confirm patients' understanding with a short quiz.

   This step is essential. We will only perform testing once we know the patient has understood the information and provided their informed consent (patients referred by a clinical genetics service are exempt from this requirement).

3. Saliva samples collected using our own collection kit, from the child and both biological parents

   After collection, samples are sent to the Preciselee laboratory using the prepaid mail bag provided.

   If a clinic or doctor does not have a kit on hand, patients can simply email a photo or scan of the completed request form to contact@preciselee.co and we will mail a kit directly to the patient.

How long does it take?

We will issue a report within 8 weeks of receiving the family's samples in our laboratory.

Once the family has discussed the results with their doctor or healthcare provider, we can directly send patients a copy of their report on request.

Preciselee Trio