Central to Precision Medicine is genomic testing, a medical test that examines an individual's DNA to identify genetic changes that may influence their health. Because genetic makeup varies from person to person, susceptibility to certain conditions and responses to medication can vary significantly. Genomic testing provides clinicians with the genetic insights needed to make accurate, informed decisions, ensuring that each patient receives care that is precisely tailored to their individual needs.
At the Molecular Diagnostic Laboratory (MDL), we provide genetic testing that helps you and your healthcare team better understand your health - whether you're seeking answers about a condition that runs in your family, a new diagnosis, or finding the right medication that works best for you. Our laboratory is accredited by the College of American Pathologists (CAP), a globally recognised mark of quality and accuracy in laboratory testing. This means you can trust that your results meet the highest standards of reliability.
MDL offers both single-gene and panel-based testing and collaborates with clinical and research partners to support the development and translation of new genomic testing services. Its development pipeline includes emerging applications in precision medicine such as polygenic risk scores (PRS), aimed at enhancing personalized disease risk assessment and improving long-term health outcomes.
Through continuous test development, research collaboration, and alignment with national initiatives, MDL contributes to building genomic capabilities that strengthen patient care today and advance precision medicine for future generations.
Hematological Oncology Genomic Testing
Our Haematological Oncology Genomic Testing services support the diagnosis and monitoring of blood cancers by identifying genetic mutations and chromosomal changes associated with haematological malignancies. By detecting key genetic markers across conditions such as leukaemia, myeloproliferative neoplasms, and other blood disorders, these tests provide clinicians with the precise genomic insights needed to guide treatment decisions, monitor disease progression, and improve outcomes for patients.
| Test | Indication | TAT (Working Days) | Specimen Requirement |
| BCR-ABL1 Fusion Transcript Screening | The assay tests for the presence of the common BCR-ABL p190 (e1a2) and p210 (e13a2/e14a2) fusion transcripts for the diagnostic workout of acute lymphoblastic leukemia and chronic myeloid leukemia, and for baseline quantitation. | 10 | Whole Blood or Bone Marrow (EDTA, 3ml), 2 tubes Specimen must reach MDL within 24 hours of blood draw. Specimen receipt timing: 8.30 pm - 2.30 pm on weekdays only. |
| BCR-ABL1 p210 Fusion Transcript Analysis | This assay tests the presence of common BCR-ABL fusion transcript forms (e13/a2 or e14/a2) in chronic myeloid leukemia and acute lymphoblastic leukemia which code for p210 protein. It is a quantitative assay intended for monitoring response to therapy in patients who have the p210 fusion form. | 10 | |
| NPM1 Quantitation test (for Type A/B/D) | This quantitative assay detects the presence of NPM1 mutant transcripts (Type A, B or D) for monitoring measurable residual disease in patients with NPM1-mutated AML during treatment follow-up. | 10 | |
| CALR Exon 9 Mutation Detection | This assay tests for insertion and deletion in exon 9 of CALR gene to aid in the distinction between reactive thrombocytosis and/or leukocytosis versus a myeloproliferative neoplasm (MPN). | 7 | Whole Blood or Bone Marrow (EDTA, 3ml), 1 tube |
| FLT3 and NPM1 Mutation Analysis | This assay screens for NPM1 exon 11 (NM_002520) alterations, FLT3 ITD and TKD D835/I836 alterations (NM_004119) to aid in the management of acute myeloid leukemia. This test should not be ordered for MRD evaluation. | 3 - 5 | |
| JAK2 Exon 12/13 HRM Mutation Analysis | This assay tests for the presence of somatic mutation within JAK2 exons 12 and 13 to aid the diagnosis of bone marrow disorders. JAK2 exons 12 and 13 testing should be performed in JAK2 V617F negative individuals. | 10 | |
| JAK2 V617F Mutation Detection | This assay tests for the presence of V617F somatic mutation to aid the diagnosis of bone marrow disorders. It does not differentiate between heterozygous and homozygous status. | 7 | |
| JAK2 V617F, CALR Exon 9 and MPL Exon 10 Mutation Detection | This assay tests for the presence of JAK2 V617F, CALR exon 9 indel and MPL W515 mutations to aid the diagnosis of bone marrow disorders. | 10 | |
| MPL Exon 10 Mutation Analysis | This assay tests for the presence of MPL mutation at codon 515 to aid the diagnosis of bone marrow disorders. | 7 | |
| HAEM Malignancies NGS | This assay tests for the presence of clinically important alterations at the time of diagnosis or disease relapse to help determine diagnostic classification and provide prognostic or therapeutic information for clinical management. The panel covers the coding regions of 108 genes associated with hematologic malignancies including Leukaemia, Myelodysplastic Syndromes (MDS) and Myeloproliferative Neoplasms (MPN). | 28 | Whole Blood or Bone Marrow (EDTA, 3ml), 1 tube This test requires patient consent. |
| TP53 Sequence Analysis | This assay tests for the presence of sequence variations in exons 2 through 11 of the TP53 gene. It is useful for evaluating the risk of disease progression and response to immunochemotherapy primarily in chronic lymphocytic leukemia. This test is not intended for the evaluation of patients suspected of having an inherited or germline TP53 cancer syndrome. | 28 |
Pharmacogenomics
Our Pharmacogenomics Services support more personalised care by understanding how an individual’s genes influence their response to medicines. This approach promotes safer and more effective treatment by reducing trial‑and‑error prescribing and minimising the risk of adverse drug reactions.
Working in close partnership with healthcare teams, we apply genetic insights to guide medication selection and dosing—enabling informed prescribing decisions and improving patient outcomes both now and in the future.
| Test | Indication | TAT (Working Days) | Specimen Requirement |
| APOE Genotyping | This assay tests for APOE alleles (e2, e3, e4) to aid risk predictions for amyloid related imaging abnormalities in individuals being treated for Alzheimer disease with B-amyloid-targeting antibodies | 14 - 28 | Whole Blood (EDTA, 3ml), 1 tube. This test requires patient consent. |
| CYP2C19 and CYP2D6 Genotyping | This assay tests for CYP2C19 (*2, *3 and *17) and CYP2D6 variants (*2, *4, *5, *9, *10, *14, *29, *34, *36, *39, *41, *42, *49 and *69) to aid in optimizing therapeutic strategy for antidepressants and antipsychotics. | 28 | Whole Blood (EDTA, 3ml), 1 tube. |
| CYP2C19 genotyping | This panel tests for CYP2C19*2 (c. 681G>A), *3 (c. 636G>A), *17 (c. -806C>T) to aid risk prediction for adverse response to drugs such as clopidogrel and voriconazole | 1 - 3 | |
| CYP2D6 Genotyping with CNV | This assay tests for CYP2D6 variants (*2, *4, *5, *9, *10, *14, *29, *34, *36, *39, *41, *42, *49 and *69) and copy number variations to aid in optimizing therapeutic strategy and dosing for drugs metabolized by CYP2D6. | 28 | |
| CYP3A5 Genotyping | This assay tests for CYP3A5*3 (c.219-237A>G) to aid optimizing treatment with tacrolimus and other drugs metabolized by CYP3A5. | 1 - 3 | |
| DPYD | This assay tests for DPYD*2A (c.1905+1G>A) and HapB3 (c.1129-5923C>G) to aid risk prediction for toxicity with fluoropyrimidines. | 1 - 3 | |
| HLA-B*15:02 Genotyping | This panel tests for HLA-B*1502 to aid risk prediction for hypersensitivity reaction to carbamazepine. | 1 - 3 | |
| HLA-B*58:01 Detection | This assay tests for HLA-B*58:01 allele to aid risk prediction for severe cutaneous adverse reactions to allopurinol. | 1 - 3 | |
| PGx Targeted Panel | This assay provides an assessment for genes with well-established pharmacogenomic associations. The targeted genes include the following: ABCG2, CYP2C9, CYP2C19, CYP2D6, CYP3A5, CYP4F2, DPYD, HLA-A*31:01, HLA-B*1502, HLA-B*57:01, HLA-B*58:01, NUDT15, SLCO1B1, TPMT, UGT1A1 and VKORC1. | 28 | |
| TPMT and NUDT15 Genotyping | This assay tests for TPMT *3 (c.460G>A, c.719A>G) and NUDT15 (c.415C>T) to aid prediction for toxicity to thiopurine drugs. | 1 - 3 | |
| UGT1A1 Genotyping | This assay tests for UGT1A1*6 (c.211G>A) and UGT1A1*28 (thymidine-adenine repeats in the TATA-box of the promoter region) to aid risk prediction for toxicity with fluoropyrimidines. | 1 - 3 |
Others
| Test | Indication | TAT (Working Days) | Specimen Requirement |
| HLA-B*51 Disease Association | The presence of HLA-B*51 is associated with Behcet's disease. However, HLA-B*51 test result is not, in isolation, diagnostic of a disease. | 14 - 28 | Whole blood (EDTA, 3ml), 1 tube. This test requires patient consent. |
News and Media
Knowing patient’s genetic make-up may change the way medicines are prescribed | The Straits Times
TTSH and life sciences firm to deliver advanced multiple-gene testing | Healthcare Asia Magazine
Your genes can affect how you react to specific drugs and diseases | The Straits Times
