Genomics Diagnostics Laboratory (GDL)

GDL offers a growing menu of genetic and molecular tests across three main areas:

1. Oncology Testing

These tests identify genetic changes that may influence cancer diagnosis, treatment choices, and monitoring. Examples include:

• Genetic testing for blood cancers
  
• Testing for fusion transcripts linked to certain leukaemias
• A 57‑gene panel for acute myeloid leukaemia and myeloproliferative neoplasms
  
• EGFR mutation testing in blood for lung cancer
  
• Tests for lymphoma and stem cell transplant monitoring
  

2. Testing for Genetic Conditions

These tests look for inherited gene or chromosome changes that may affect health. Examples include:

• Thalassaemia testing
  
• Y‑chromosome deletions
  
• Leber’s Hereditary Optic Neuropathy (LHON)
  
• Confirmation of variants identified through whole exome or whole genome sequencing
  
• Testing for conditions associated with HLA‑B27
  

3. Pharmacogenetics (Medication Response)

These tests identify genetic factors that influence how a person responds to medications, helping doctors avoid adverse reactions, and choosing safer alternatives.

Currently offered:

• Testing for carbamazepine and allopurinol hypersensitivity
  

GDL is actively expanding its test menu to support early diagnosis and personalised treatment. Planned additions include:

• Gene panels for familial hypercholesterolaemia
  
• Gene panels for chronic kidney disease
  
• Testing for inherited heart conditions
  
• Testing for hereditary cancers
  
• Additional medication response (pharmacogenetic) tests
  

A full and updated list of tests is available in our online catalogue.

Genetic tests from GDL must be ordered by registered medical practitioners. Your doctor will assess whether a test is appropriate based on your medical history and clinical needs.

For some tests, you may first be referred for pre‑test genetic counselling to understand:

• The benefits and limitations of the test
  
• What results may mean for you and your family
  
• Whether informed consent is needed

If you think genetic testing may benefit you, please speak with your doctor or specialist. They can:

• Recommend the appropriate test
  
• Arrange genetic counselling if needed
  
• Submit the test request to GDL
  

You may also access educational materials provided by your care team to learn more about genetic testing at NUH.

Our laboratory is led by a dedicated group of clinicians and scientists who work closely together to ensure reliable testing and timely communication of results:

Dr Chew Kean Lee
Senior Consultant

Dr Karen Tan
Consultant

Dr Desiree du Sart
Principal Scientific Officer

Ms Chiew Mei Ting
Laboratory Supervisor

Our team supports patients and clinicians by:

• Helping doctors select the most appropriate genetic test
  
• Explaining what results may mean for diagnosis or treatment
  
• Ensuring that every test is performed safely and accurately

Genomics Diagnostics Laboratory (GDL)

Opening Hours

Contact Us

For Doctors within NUH

Outside NUH: