Paediatric Genetics and Metabolism

Our multidisciplinary team, which includes paediatricians, dietitians and laboratory services, will ensure comprehensive care for your child.

• Associate Professor Denise Goh Li Meng

• Associate Professor Stacey Tay

• Dr Chin Hui-Lin

• Ms Shreya Surendra Shetty

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.

Your child will be evaluated by one of our paediatricians specialising in genetics and metabolic diseases, who will conduct a comprehensive review of his or her medical condition. Diagnosis and treatment will be tailored to your child’s specific condition. Recommendations for further testing or genetic counselling will be provided as needed.

Here are some frequently asked questions (FAQs) on what you need to know before scheduling an appointment and what to expect during your visit.

1. Who should see a doctor who specialises in genetics? 

The following groups of individuals may require a genetic consultation: 

• Individuals with more than one birth defect
• Individuals who have global developmental delay or intellectual disability of unknown cause 
• Individuals who have autism spectrum disorder 
• Individuals who have multiple unexplained health problems (e.g. failure to grow, recurrent infections)
• Individuals at risk of a genetic condition  
• Individuals who have someone in their family with a genetic condition 
• Ongoing pregnancy with a fetus with an abnormality identified on screening tests 
• Couples who are worried about having another child with a genetic condition 
• Children with cancer due to a suspected genetic cause 

For adults with cancer suspected to be due to a genetic cause, please visit the adult cancer hereditary clinic. 

2. Who needs to come for the appointment? 

The individual suspected of having a genetic disorder should come for the appointment. This allows the specialist to assess his/her condition and discuss the appropriate follow up. 

Parents or legal guardians must accompany patients under 21 years old to appointments. They can provide key details like family history, birth history, and developmental milestones to assist with diagnosis and treatment, and provide consent for genetic testing where required. 

Additionally, discussions regarding genetic tests may arise during the appointment. These matters can be complex and involve costs which may require input from the parents or legal guardian. 

3. What will happen at the genetics appointment? 

The specialist will assess the individual and discuss the possible diagnosis, options to proceed with genetic testing and appropriate investigations. 

The decision to undergo genetic testing can be complex with many considerations, including benefits and risks of testing, as well as implications of the results on the family and future generations. The discussion may also touch upon the potential impact on psychological well-being, insurance coverage and involvement of other family members. 

If an individual decides to proceed with genetic testing, it can usually be done on the same day as the appointment.  

4. How is genetic testing done? 

Genetic testing typically involves collecting a blood sample. Saliva or cheek swab or other tests may be ordered by the doctor as well.

5. I am an adult, why is my genetics appointment at a children’s clinic? 

Our specialists see patients at the Khoo Teck Puat – National University Children’s Medical Institute (KTP-NUCMI) clinic located at the National University Hospital. Although this is a children’s specialist clinic, the specialists also see adults who require evaluation for possible genetic conditions.

6. How do I make an appointment with a genetic specialist? 

Your doctor can refer you to the genetics clinic.  

Alternatively, you can also email [email protected].  

For directions to the Khoo Teck Puat – National University Children’s Medical Institute, including access via MRT, drop-off points and parking information, click here.

For more information on our paediatric clinic or contact details, click here.

To make an appointment online, click here.