The clinical genetics service is a specialist inpatient and outpatient service that provides dedicated tertiary clinical care to children and adults with genetic disorders or who are at risk of developing a genetic disorder.
Common reasons for care include evaluation for possible genetic diseases, confirmation of the diagnosis of genetic diseases and follow up care for individuals with genetic diseases. Care is also provided for individuals who seek carrier detection, prenatal diagnosis and genetic counselling for risk for having or transmitting a genetic disorder.
Referrals to the doctors in the Genetics service can be made through the University Children's Medical Institute at the National University Hospital.
Chromosomal analysis and Fluoresecent-in-situ hybridisation (FISH) are available at the National University Hospital. These tests allow the confirmation of chromosomal disorders such as Down's syndrome, Turner syndrome, Klinefelter syndrome, Prader-Willi syndrome and Angelman syndrome.
Molecular Diagnostic Service
We provide in-house molecular diagnostic tests for the following conditions:
- Fragile X Syndrome
- Prader-Willli Syndrome
- Angelman Syndrome
- Duchenne's muscular dystrophy
- Spinal muscular atrophy.
- Screening for thalassaemia and DNA analysis of genotype where necessary.
We also co-ordinate and facilitate molecular diagnostic tests for many other genetic conditions.