Paediatric and Adult Genetics
2026/03/30
Children and adults may be affected with genetic diseases. Rare disease refers to genetic conditions affecting less than 1 in 2000 individuals. These are individually uncommon, but together they affect many families.
These conditions are caused by changes in a person’s genes or chromosomes and can involve multiple organs, developmental challenges, or features present from birth. Genetic insights now allow families to receive clearer diagnoses, more personalised care, and better long‑term planning.
Adult and paediatric patients suspected with or at risk of rare diseases are seen at our Paediatric Genetics and Metabolism Clinic.
Genetic diseases may include:
- Birth defects
- Chromosomal disorders
- Single‑gene disorders
These conditions can be complex and affect various parts of the body hence, genetic evaluation plays an important role in understanding their cause and guiding care.
Genetic testing can:
- Confirm or rule out a suspected genetic condition
- Help assess the likelihood of developing or passing on a genetic disorder
- Guide treatment, medical management, and follow‑up
- Provide clarity for family planning
- Support early interventions and connections to specialised services
You may benefit from genetic evaluation if you or your child has:
- Multiple birth defects
- Unexplained developmental delays or intellectual disabilities
- Autism spectrum disorder
- Multiple unexplained health issues
- A family history of genetic conditions or hereditary cancers
- Concerns about reproductive risk (individuals or couples planning pregnancy)
- A pregnancy where fetal abnormalities have been detected
- Concerns about genetic conditions in previous pregnancies
If genetic testing is recommended:
- Get a referral from your doctor, or contact our clinic directly
- Attend an initial consultation with our genetics specialist
- Discuss testing options and possible implications with our team
- Provide a sample, usually a blood test (other samples may be required depending on the condition)
- Review your results with your specialist, who will guide next steps and care plans
Referrals may be made via:
- Polyclinics
- General practitioners
- Specialists in public or private practice
Private patients may self‑refer or be referred by their own doctor.
Depending on your needs, testing may include:
- Chromosomal analysis
- Fluorescent in situ hybridisation (FISH)
- Chromosomal microarray analysis
- Comprehensive gene sequencing
- Deletion/duplication gene analysis
- Multigene panel testing
- Whole exome or whole genome sequencing
- Optical genome mapping
- Long‑read sequencing
Your clinical team will help you understand which test is most appropriate.
Our Clinical Genetics service is led by an experienced multidisciplinary team:
Associate Professor Denise Goh Li Meng
Head of Division & Senior Consultant
Adj Associate Professor Chin Hui‑Lin
Senior Consultant
Dr Koh Chee Teck
Associate Consultant
Genetic Counsellors:
- Ms Chen Yanni
- Ms Shreya Surendra Shetty
- Ms Ker Wei Lim (Genetic Counsellor Associate)
Our team works closely with paediatricians, specialists and allied health professionals to provide holistic care and support.
For more resources, click
here.
Paediatric Genetics and Metabolism Clinic
Khoo Teck Puat – National University Children’s Medical Institute
National University Hospital
Opening Hours
Monday – Friday: 9.00am–5.30pm
Closed on Saturdays, Sundays & Public Holidays
Contact Us
Email:
[email protected]
