Genetic Testing typically involves the following:
- A Genetic Counselling appointment (see: “what to expect at a genetic appointment” for more information)
- Collection of specimen (urine/blood/saliva)
- An appointment to obtain the results of testing.
Before deciding if you would like to proceed with genetic testing, it may be helpful to consider some of the reasons for and against it.
Some reasons people wish to have genetic testing:
- To confirm/find a diagnosis
- Guide for future family planning and pregnancies
- Explanation of family history
- Assess if there are health or reproductive implications for the wider family (conditions may have implications for not only an individual but also for others in the family, including siblings, parents, aunts, and uncles)
- Helping to come to terms with why the child has epilepsy
- Access to financial and social supports
- To assess if a diagnosis helps their doctor better treat or manage the child’s epilepsy.
Some reasons people wish not to proceed with genetic testing:
- A diagnosis of the genetic condition may reveal a more severe disease than initially predicted
- The family are not planning further children
- Concern about revealing non-maternity or non-paternity
- Concerns about discrimination (e.g. life/mortgage /income protection insurance applications, NOT health insurance). More information on the implications of genetic testing on insurance in Australia can be found here.
- Concerns about privacy
Speaking to a geneticist/genetic counsellor will help you decide whether genetic testing is the right decision for you and your family right now.
Types of tests
Chromosome Array
- This test examines if there are small losses or gains of whole genes or parts of genes
- Results for this test are usually available within 4-8 weeks
- More information on this type of testing can be found here.
Epilepsy Gene Panel
- This test examines the DNA sequence of multiple/a targeted set of genes that are associated with epilepsy at one time
- Results for this test are usually available within 3-4 months
- More information on this type of testing can be found here.
Whole Exome testing and Whole Genome testing
- The DNA sequence within a gene is made up of exons (protein-making) parts and introns (non-protein-making) parts. Most genetic conditions occur as a result of changes within the DNA sequence of the exons.
- Whole exome sequencing examines the DNA sequence of all the exons of all our 20 000 genes at the same time
- Whole Genome Sequencing examines the DNA sequence of the introns AND exons of all our 20 000 genes at the same time
- Results for exome sequencing are usually available within 4-6 months
- Genome sequencing is not routinely available in Australia
- More information on this type of testing can be found here.