Genetics
Our team provides specialised care for individuals with genetic conditions or those at risk. Services include genetic counselling, evaluations and genetic testing to ascertain carrier status, prenatal and preimplantation diagnosis, and the likelihood of transmitting or inheriting a genetic disorder.
Patients are typically referred for:
Symptoms suggestive of a genetic disease, such as birth defects or persistent health issues
Family history suggestive of possible genetic disease
Verification of a genetic disease diagnosis
Expert, comprehensive care for individuals with genetic diseases
An abnormal foetus
Recurrent pregnancy loss
Common conditions seen are:
Chromosomal disorders such as Down Syndrome, Trisomy 13, Trisomy 18, Turner Syndrome, Klinefelter Syndrome, William Syndrome or Prader–Willi Syndrome, translocation carrier
Single-gene disorders such as Neurofibromatosis 1, Marfan Syndrome, Ehlers Danlos Syndrome, Tuberous Sclerosis, Haemophilia, Duchenne Muscular Dystrophy, Fragile X or inborn errors of metabolism (e.g. citrin deficiency, urea cycle defect, amino acidopathy)
Birth defects impacting the heart, brain, limbs, skeletal structure, growth or development
Global developmental delays including autism
Sensory impairments such as hearing loss or visual loss
Abnormalities identified through newborn or genetic screening
Risk assessment for hereditary conditions, particularly in cases of abnormal foetal development, family history of genetic diseases or consanguinity
Undiagnosed Case Service
We recognise that some individuals present with symptoms that do not match a known diagnosis. Our team, which includes a range of multidisciplinary professionals, is committed to assisting these individuals in finding a diagnosis.
For more information on Undiagnosed Case Service, click here
Laboratory Services
Biochemical Genetics Testing
Enzymes analysis
Amino acid analysis
Organic acid analysis
And more
Cytogenetic Testing
Chromosomal analysis
Fluorescent-in-situ hybridisation (FISH)
Chromosomal microarray analysis
Molecular Genetic Diagnostic Service
Familial or targeted variant testing
Comprehensive sequencing of a gene
Deletion or duplication gene analysis
Multigene panels
Whole exome sequencing
Whole genome sequencing
And more
Metabolic Diseases
Our team specialises in treating individuals and families affected by inborn errors of metabolism, which are rare individually but not uncommon as a group. Symptoms can manifest at any age, including adulthood, with an incidence rate of about 1 in 2,300 live births in Singapore
Our services include:
Newborn screening for inborn errors of metabolism
Diagnostic testing for individuals suspected to have inborn errors of metabolism
Management of individuals with inborn errors of metabolism
Genetic counselling for families at risk for such conditions
Click here to find out more about inborn errors of metabolism.
