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The Personalised Medicine Service was established in 2015 to advance clinical care with appropriate genetic testing and counselling.

Our Molecular Diagnostic Laboratory (MDL) is accredited by the College of American Pathologists (CAP) to provide a range of testing for germline (inherited) and somatic (acquired) variants. It employs cutting-edge sequencing and bioinformatics for diagnosis and clinical interpretation. The laboratory is active in test development and works closely with clinical colleagues to meet new demands. It has well established national links for both diagnostic and research collaborations.

The Genetic counselling service provides care for families and individuals who have or at risk of a genetic disorder. Our service focuses mainly on oncology (cancer genetics) but is expanding into non-oncology disorders.

MDL is dedicated in providing quality and timely lab results for optimal patient management. Our tests include single gene and panel-based testing using different techniques including High resolution melt curve analysis, TaqMan genotyping, Droplet digital PCR, Sanger sequencing, Microarray and Massively parallel sequencing.

We work collaboratively to drive innovations and develop new tests. MDL is pioneering pharmacogenomic testing using a lab developed panel to offer a more personalised model of care for drug selection and dosing. Under our pipeline includes the development of polygenic risk scores, the latest advances in precision medicine, to improve health outcomes through more personalised disease risk management.

MDL Test Listing

T​​estTAT (Working Days)Specimen Type & Requirement
BCR-ABL1 p210 Fusion Transcript Analysis 10Whole Blood or Bone Marrow (EDTA, 3ml), 2 tubes

Specimen must reach MDL within 24 hours of blood draw.

Specimen receipt timing: 8.30am – 3.30pm on weekdays only.
BCR-ABL1 Fusion Transcript Screening10
CALR Exon 9 Mutation Detection7Whole Blood or Bone Marrow (EDTA, 3ml), 1 tube
FLT3 Mutation Analysis3 - 5
JAK2 V617F, CALR Exon 9 and MPL Exon 10 Mutation Detection10
JAK2 Exon 12/13 HRM Mutation Analysis10
JAK2 V617F Mutation Detection7
MPL Exon 10 Mutation Analysis7
HAEM Malignancies NGS14 - 21Whole Blood or Bone Marrow (EDTA, 3ml), 1 tube

This test requires patient consent.
TP53 Sequence Analysis10 - 14
HLA-B*15:02 Genotyping1 - 3Whole Blood (EDTA, 3ml), 1 tube

CYP2C19 genotyping1 - 3
CYP2D6 Genotyping with CNV7 - 10
CYP3A5 Genotyping1 - 3
DPYD Genotyping1 - 3
PGx Targeted Panel7 - 10
TPMT and NUDT15 Genotyping1 - 3
UGT1A1 genotyping3 - 5
CYP2C19 and CYP2D6 genotyping10-14
HLA-B*58:01 Detection1 - 3
Warfarin Genotyping1 - 3
TTR Sequence Analysis10 - 14Whole Blood (EDTA, 3ml), 1 tube

This test requires patient consent.
NOTCH3 Targeted Sequencing 10 - 14
Targeted Variant Analysis10 - 14

During the genetic counselling session, our genetic counsellor will:

  • Compile a comprehensive picture of your family tree
  • Analyse genetic risks for certain diseases or cancer
  • Discuss what test are available and whether genetic testing might be right for you
  • Explain the results of genetic tests and what they mean for you and your family
  • Provide guidance and emotional support to help you decide what to do next
Some genetic conditions may need specialist care and management involving further appointments with other specialists. This is more likely to be true for the inheritable cancer syndromes. Currently, TTSH genetic counselling service is open to referrals from clinicians, mainly from Oncologists. We also accept referral from non-oncologist physicians such as Neurologists and Cardiologists.

Operating Hours

Monday to Friday: 8.30am to 5.30pm
Close on Saturday, Sunday, and Public Holidays.


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