If your child has a health-related condition that is difficult to diagnose even after extensive testing and/or there is a family history of medical conditions, we might recommend genetic sequencing. In our clinic Genome Analysis, is done by experts who specialise in sequencing patient exomes from samples of saliva or blood.
Your options will be discussed in the clinic.
Gene Panel Testing
Gene Panel Testing is a diagnostic test that involves the selective sequencing of multiple genes simultaneously. This technique allows for the identification of genetic variants that may be associated with specific diseases and conditions, enabling more accurate diagnosis, prognosis and personalised treatment plans.
Some of the conditions that may benefit from this testing include:
- Epilepsy/Seizures
- Autism
- Intellectual disability
- Neuromuscular disorders
Whole Exome Sequencing (WES)
WES is a diagnostic test that involves the selective sequencing of the protein-coding regions of the genome, known as exons. This technique allows for the identification of genetic variants that may be associated with various diseases and conditions, enabling more accurate diagnosis, prognosis and personalised treatment plans. Some of the conditions that may benefit from this testing include:
- Epilepsy/Seizures
- Autism
- Intellectual disability
- Developmental Delays
- Neuromuscular disorders
- Brain structural abnormalities
- Abnormalities of the head, neck, and face
- Hearing and vision problems
- Short stature/severe skeletal abnormalities
- Immune deficiencies or recurrent infections
- Recurrent or severe unexplained illnesses
- Ataxias
- Movement disorders
- Metabolic disorders
Whole Genome Sequencing (WGS)
WGS is a diagnostic test that involves is the process of determining the entirety, or nearly the entirety, of the DNA sequence of an organism’s genome at a single time. This technique allows for the identification of new genetic variants that may be associated with various diseases and conditions, enabling more accurate diagnosis, prognosis and personalised treatment plans. Some of the conditions that may benefit from this testing include:
- Epilepsy/Seizures
- Autism
- Intellectual disability
- Developmental Delays
- Neuromuscular disorders
- Brain structural abnormalities
- Abnormalities of the head, neck, and face
- Hearing and vision problems
- Short stature/severe skeletal abnormalities
- Immune deficiencies or recurrent infections
- Recurrent or severe unexplained illnesses
- Ataxias
- Movement disorders
- Metabolic disorders