Paediatric Genetics

At First Light Genetics we provide clinical assessment, genetic counselling, and genetic testing services for children of all ages with a known or suspected genetic condition.

Many conditions that develop during childhood are caused by changes in a child’s genes. In some children the change was passed down (inherited) from a parent. In other children, the genetic change occurred for the first time in that child.

The first signs of a genetic condition may be seen before birth, soon after birth, when the child is a baby or young child, or may not be seen until the child is a teenager. Signs and symptoms that may suggest a genetic condition include:

  • Developmental delay/intellectual disability
  • Differences in the face or internal organs that are present from birth. For example, cleft palate, changes in the structure of the heart, or unusual facial features
  • Loss of hearing that starts at an early age.

Genetic assessment and testing at First Light Genetics

To find out if a child’s health problems have a genetic cause, we will first:

  • Look at the child’s signs and symptoms
  • Ask about their medical history
  • Take a family history
  • Perform a detailed physical examination.

If we suspect that a genetic condition may be the cause of the child’s health problems, we will then recommend and arrange genetic testing.

Once the results are returned, we will interpret and explain the results. If a genetic diagnosis is found, we will refer the child to a suitable specialist or provide guidance to their paediatrician or general practitioner (GP) on managing the condition. 

Having a genetic diagnosis can be helpful to:

  • Provide an ‘answer’ for the child’s health problems
  • Help guide therapy
  • Identify possible future health problems
  • Help families to connect with other children and families with the same genetic condition, and with support and advocacy groups
  • Help with obtaining funding for therapy
  • Help with family planning if the condition was inherited (passed down) from one or both parents.

Frequently asked questions

Usually either a blood sample or a cheek swab (light scrape of the skin inside the cheek) is taken.

It depends on the type of testing being done. Results are usually returned in 4 to 6 months.

In Australia, genetic testing is covered by Medicare for children aged 10 years or younger with developmental delay/intellectual disability and differences in the face or organs that are present from birth (known as congenital anomalies).

The cost of genetic testing for children with other signs and symptoms varies depending on the type of test. Our team can discuss this with you at your appointment.

It can be helpful for both biological parents to be tested at the same time as the child. This makes it easier to find changes in the child’s genes that may have caused their health condition. It can also tell us if the condition was inherited from one or both parents or is a new (de novo) change.

  • A genetic change is identified that is known to cause the child’s health condition.
  • No genetic change is identified. This does not mean the condition is not genetic. It may be caused by a gene that has not yet been identified or cannot be detected by the test used.
  • Uncertain result (also known as a variant of uncertain significance). Sometimes a genetic change is found that may be the cause of the condition, but there is not yet enough evidence to say for certain.
  • Incidental finding. A genetic change is identified that may increase the risk of developing a different health condition. This result is very unlikely.

No. The condition may be caused by a gene that has not yet been identified or cannot be detected by the test used. Many people choose to have the results re-analysed 1-2 years later, when technology has improved, and more genetic conditions have been found.

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