TEST NAME

SPECIMEN / REQUIREMENT

mL

Remarks

Package for Study

Acute Myeloid Leukaemia (AML) gene fusion by RT-PCR
Package 1
✧ RUNX1-RUNX1T1 (AML1-ETO)
✧ CBFB-MYH11
✧ PML-RARA

3

Fresh EDTA BM (preferable) / PB

Package 2
✧ KMT2A-MLLT3 (MLL-AF9)
✧ KMT2A-MLLT10 (MLL-AF10)
✧ KMT2A-AFF1 (MLL-AF4)

3

Fresh EDTA BM (preferable) / PB

Acute Myeloid Leukaemia Genotyping
✧ NPM1 mutation
✧ FLT3-ITD mutation screening

3

Fresh EDTA BM (preferable) / PB

Ph-Neg Myeloproliferative Neoplasms gene fusion package (by RT-PCR)
✧ ETV6-PDGFRB (TEL-PDGFRB)
✧ FIP1L1-PDGFRA
✧ ZMYM2-FGFR1 (ZNF198-FGFR1)

3

Fresh EDTA BM (preferable) / PB

α-Thalassaemia for common deletion, including 5 common deletions, -α3.7 and -α4.2.

3

Fresh EDTA BM (preferable) / PB

Thrombophilia Screening

Factor V Leiden mutation screening

3

EDTA PB

Prothrombin G20210A mutation screening

3

EDTA PB

Methylenetetrahydrofolate reductase gene C677T mutation screening

3

EDTA PB

Hereditary Haemochromatiosis Gene Mutation Screening

C282Y & H63D mutation of HFE gene

3

EDTA PB

Thalassaemia & Haemoglobinopathy Investigation

α-thalassaemia genotyping

α⁰-thalassaemia test 1
- [5 common deletions: -- ^SEA, -(α)^20.5, --^MED, --^FIL, and --^THAI]

3

EDTA PB

α⁺-thalassaemia test 2 - [-α^3.7 ]

3

EDTA PB

α⁺-thalassaemia test 3 - [-α^4.2 ]

3

EDTA PB

α-thalassaemia test 4 - [α-globin gene DNA sequencing]

3

EDTA PB

α-thalassaemia test 5 - [Hb Constant Spring/Hb Quong Sze]

3

EDTA PB

β-thalassaemia genotyping

β-thalassaemia test - [β-globin gene DNA sequencing]

3

EDTA PB

Hereditary Persistence of Fetal Haemoglobin screening [HPFH-6 and HPFH-SEA] and Chinese ^Gγ (^Aγδβ)⁰ thalassaemia

3

EDTA PB

Myeloproliferative Neoplasms (MPNs)

JAK2 tyrosine kinase gene Val617Phe Mutation Screening 

3

Fresh EDTA BM (preferable) / PB

CALR exon 9 mutation test (test not accredited)

3

Fresh EDTA BM (preferable) / PB

MPL exon 10 mutation test (test not accredited)

3

Fresh EDTA BM (preferable) / PB

FIP1L1/PDGFRA derived from an interstitial deletion on chromosome 4q12 by RT-PCR

3

Fresh EDTA BM (preferable) / PB

ETV6-PDGFRB (TEL-PDGFRB) derived from CMML / MDS with t(5;12)(q33;p13) by RT-PCR

3

Fresh EDTA BM (preferable) / PB

ZMYM2-FGFR1 (ZNF198-FGFR1) derived from Ph^NEG myeloproliferative neoplasm with t(8;13) by RT-PCR

3

Fresh EDTA BM (preferable) / PB

Acute Lymphoblastic Leukaemia (ALL) by RT-PCR

KMT2A-AFF1 (MLL-AF4) derived from ALL with t(4;11)(q21;q23)

3

Fresh EDTA BM (preferable) / PB

TCF3-PBX1 (E2A-PBX1) derived from ALL with t(1;19)(q23;p13)

3

Fresh EDTA BM (preferable) / PB

ETV6-RUNX1 (TEL/AML1) derived from ALL with t(12;21)(p13;q22)

3

Fresh EDTA BM (preferable) / PB

BCR/ABL e1a2 derived from ALL with t(9;22)(q34;q11)

3

Fresh EDTA BM (preferable) / PB

Acute Myeloid Leukemia (AML)

RUNX1-RUNX1T1 (AML1-ETO) derived from AML with t(8;21)(q22;q22) by RT-PCR

3

Fresh EDTA BM (preferable) / PB

CBFB/MYH11 derived from AML with inv(16)(p13;q22), t(16;16)(p13;q22) by RT-PCR

3

Fresh EDTA BM (preferable) / PB

KMT2A-MLLT3 (MLL-AF9) derived from AML with t(9;11)(p22;q23) by RT-PCR

3

Fresh EDTA BM (preferable) / PB

KMT2A-MLLT10 (MLL-AF10) derived from AML with t(10;11)(p12;q23) by RT-PCR

3

Fresh EDTA BM (preferable) / PB

PML/RARA derived from AML with t(15;17)(q22;q21) by RT-PCR

3

Fresh EDTA BM (preferable) / PB

FLT3-ITD mutation screening

3

Fresh EDTA BM (preferable) / PB

FLT3-TKD D835/I836 mutation test (test not accredited)

3

Fresh EDTA BM (preferable) / PB

NPM1 mutation test

3

Fresh EDTA BM (preferable) / PB

CEBPA mutation test (test not accredited)

3

Fresh EDTA BM (preferable) / PB

NPM1 (Type A) MRD by quantitative RT-PCR

15 ml Fresh EDTA BM (preferable) / 20 ml PB

NPM1 (Type B/D) MRD by quantitative RT-PCR

15 ml Fresh EDTA BM (preferable) / 20 ml PB

RUNX1::RUNX1T1 MRD by quantitative RT-PCR

15 ml Fresh EDTA BM (preferable) / 20 ml PB

CBFB::MYH11 (Type A) MRD by quantitative RT-PCR

15 ml Fresh EDTA BM (preferable) / 20 ml PB

Chronic Meyloid Leukemia (CML)

p210 & p190 BCR::ABL1 (e1a2, e13a2 & e14a2) by RT-PCR

3

Fresh EDTA BM (preferable) / PB

BCR/ABL1 Quantitative RT-PCR (e13a2 & e14a2 transcript)

9

Fresh EDTA PB (3 x 3 ml)

Lymphoproliferative Disorders

BRAF V600E mutation test 
(by Allele-specific PCR)

3

Fresh EDTA BM (preferable) / PB

MYD88 L265P mutation test 
(by Allele-specific PCR)

3

Fresh EDTA BM (preferable) / PB

Tyrosine Kinase Mutation Screening

KIT exon 8 and 17 mutation (test not accredited)

3

Fresh EDTA BM (preferable) / PB

BCR/ABL1 kinase domain mutation (test not accredited)

3

Fresh EDTA PB (3x3 mL)

Giant Platelet Syndrome

MYH9 mutation screening (Exon 17, 27, 31, 39, 41) (test not accredited)

3

EDTA PB

Next-Generation Sequencing-Based Tests

TP53 Full Gene Sequencing

3

EDTA BM / PB

IGHV somatic Hypermutation for CLL

3

EDTA BM / PB

Myeloid NGS DNA Panel

3

EDTA BM (preferable) / PB

RNA-seq for fusion detection

3

EDTA BM (preferable) / PB

HLA Markers for Adverse Drug Reactions

HLA-B*15:02 for carbamazepine prescription

3

EDTA PB

HLA-B*57:01 for abacavir prescription

3

EDTA PB

HLA-B*58:01 for allopurinol prescription

3

EDTA PB

HLA-DQB1*0602 for diagnosis of narcolepsy

3

EDTA PB

Fluorescence In-situ Hybridization (FISH) Detection of Gene Fusion/Rearrangement

BCR-ABL1

Fresh EDTA BM (preferable) / PB
Disclaimer: feasibility of testing and number of probes applied can vary depending on specimen quality

PML-RARA

RUNX1-RUNX1T1 (AML1-ETO)

ETV6-RUNX1 (TEL-AML1)

KMT2A (MLL) rearrangement

4q12 rearrangement

PDGFRB rearrangement

Trisomy 8

Monosomy 7

Sex-mismatch (XY) FISH

Multiple myeloma panel: CDKN2C deletion, CKS1B gain, 13q deletion, IGH-FGFR3, IGH-MAF & TP53 deletion

CLL panel: ATM deletion, trisomy 12, 13q deletion & TP53 deletion

Remarks:

1. Specimen for Molecular Haematology tests should arrive UPS before 3pm.

2. Please contact UPS at 3505 3949 for advance booking for all the above Molecular Haematology tests.