Paediatric Genetics
Expert support for children with suspected or known genetic conditions.
At Rosalind Genetics, we provide compassionate, evidence-based care for families navigating genetic conditions in infancy and childhood. From developmental concerns to complex diagnoses, our team works closely with you to understand what’s going on and how best to support your child’s health and future.
When should I consider paediatric genetic services?
Sometimes a child’s medical or developmental challenges may be caused by an underlying genetic condition. Genetic assessment can help explain why a condition has occurred, guide treatment or management, and provide clarity for the future – including any implications for siblings or future children.
Our service may be helpful if your child has:
Unexplained developmental delay or intellectual disability
Autism spectrum disorder or behavioural differences
Multiple medical issues across different systems
Unusual physical features or differences in growth
A known or suspected genetic condition
A family history of childhood-onset conditions
What to expect
We take the time to listen and explain. Every consultation is tailored to your child’s specific needs.
1
Referral
Get a referral from your GP to Rosalind Genetics.
2
Consult
Speak to our genetic counselling team about your options in a telehealth consult online.
3
Family History
Discuss your family history and whether testing is appropriate.
4
Genetic Testing
Genetic testing may be recommended, depending on the clinical picture.
5
Results
Receive your results with clear explanations and personalised guidance.
6
Support
Access ongoing support, referrals, and family testing if appropriate.
Please note, in many paediatric cases, an in-person consultation is required. These consultations currently take place in Sydney, with new locations opening soon. Please call us to determine whether an in-person appointment for your child is needed.
1. Get a referral
From your GP, obstetrician, or fertility specialist.
2. Consultation
Meet with one of our genetic counsellors (in person or via telehealth).
3. Family history
Discuss your family history and whether testing is appropriate.
4. Undertake testing
Undertake testing (if needed). We’ll explain what it covers and what results mean.
5. Results
Receive your results with clear guidance and emotional support.
6. Next steps
Plan your next steps with confidence, whatever the outcome.
What kinds of genetic conditions does Rosalind Genetics support?
We assess and support a broad range of conditions in children, including:
- Developmental disorders (e.g. global developmental delay, intellectual disability)
- Neurogenetic conditions (e.g. Rett syndrome, fragile X syndrome, epilepsy syndromes)
- Metabolic or mitochondrial disorders
- Syndromes involving physical differences or congenital anomalies
- Genetic causes of behavioural or learning challenges
- Children with a known genetic diagnosis who need ongoing support
Not every child needs testing – and not every test gives a clear answer. But our goal is always to give families the clearest possible picture of what’s going on.
Medicare and costs
Many paediatric genetic services and tests are eligible for Medicare rebates, particularly when there’s a clear clinical need.
We’ll explain any costs upfront and help you understand your options before proceeding.
Why Choose Rosalind?
Rosalind’s paediatric team includes clinical geneticists and counsellors experienced in working with children and families. We understand that receiving a diagnosis – or searching for one – can be a stressful experience. We’re here to guide you with empathy, clarity, and expertise.
We offer:
- Collaborative, family-centred care
- Coordination with paediatricians, therapists, and specialists
- Ongoing support beyond the initial consultation
Frequently Asked Questions
Do I need a referral?
Yes. You’ll need a referral from a GP or specialist to access this genetic testing service.
Will my child need testing?
Not always. We’ll assess your child first and only recommend testing if it’s clinically useful and appropriate.
How is testing done?
Most genetic tests are done by a simple blood or saliva sample. In some cases, testing may involve other family members as well.
Will we get a diagnosis?
Sometimes, testing gives a clear answer – other times it helps rule things out or identify areas for monitoring. We’ll talk through all outcomes, and what they mean for your child’s care.
Can siblings or parents be tested too?
Yes – if a genetic condition is identified, we may recommend testing for parents or siblings to help inform family planning and medical care.
Have more questions?
Reach out to us at gene@rosalindgenetics.com or call us on 1300 042 132.