Genetics
Our team is dedicated to providing specialist care to children and adults with genetic disorders or who are at risk of developing a genetic disorder.
The common reasons for referral to this clinic are:
- Having symptoms or family history suggestive of possible genetic diseases
- Need for confirmation of a diagnosis of genetic diseases
- Need for comprehensive expert care for individuals with genetic diseases
- Genetic counselling, evaluation and/or testing for carrier status, prenatal diagnosis, preimplantation diagnosis, risk for having or passing on a genetic disorder
The common type of conditions seen are:
- Chromosomal disorders such as Down Syndrome, Trisomy 13, Trisomy 18,
Turner Syndrome, Klinefelter Syndrome, William Syndrome or Prader–Willi Syndrome
- 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)
- Children with single or multiple congenital malformations such as heart problem, brain problem, limb deformities, skeletal problem, short stature or failure to thrive
- Children with global developmental delay and/or
autism
- Children with
hearing loss and/or visual loss
- Children with abnormal newborn screening
- Individuals with abnormal genetic screening or genetic testing results
- Individuals at risk of a genetic condition such as abnormal fetus, birth defects, abnormal family history or marrying a relative
Undiagnosed Case Service
Our team recognises that there are individuals with signs and symptoms for which there is no known diagnosis. We provide and co-ordinate a multidisciplinary team that works towards helping such individuals find a diagnosis.
Click
here for more information on Undiagnosed Case Service.
Laboratory Services
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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 Mutation Testing
- Common Mutation Panels
- Comprehensive Sequencing of a Gene
- Deletion or Duplication Analysis
- Targeted Gene or Disease Panels
- Whole Exome Sequencing
- Whole Genome Sequencing
- And more
Metabolic Diseases
Our team serves individuals and families with inborn errors of metabolism. Inborn errors of metabolism are individually rare, but collectively common. Presentation can occur at any age, even in adulthood. The incidence in Singapore is about 1 in 2,300 live births.
We provide:
- 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.