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MOLECULAR HAEMATOPATHOLOGY
TEST NAME |
SPECIMEN / REQUIREMENT |
Factor V Leiden mutation screening |
EDTA PB |
Prothrombin G20210A mutation screening |
EDTA PB |
Methylenetetrahydrofolate reductase gene C677T mutation screening |
EDTA PB |
C282Y & H63D mutation of HFE gene |
EDTA PB |
α-thalassaemia genotyping |
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α 0-thalassaemia test 1 – [5 common deletions: -- SEA, -(α) 20.5, -- MED, -- FIL, and -- THAI] |
EDTA PB |
α +-thalassaemia test 2 – [-α 3.7 ] |
EDTA PB |
α +-thalassaemia test 3 – [-α 4.2 ] |
EDTA PB |
α-thalassaemia test 4 – [α-globin gene DNA sequencing] |
EDTA PB |
α-thalassaemia test 5 – [Hb Constant Spring and Hb Quong Sze mutation] |
EDTA PB |
β-thalassaemia genotyping |
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β-thalassaemia test – [β-globin gene DNA sequencing] |
EDTA PB |
Hereditary Persistence of Fetal Haemoglobin screening [HPFH-1,2,3,6 and SEA] and Chinese G γ ( Aγδβ) 0 thalassaemia |
EDTA PB |
PCR for BCL-1 translocation t(11;14)(q13;q32) |
EDTA PB / BM / Tissue Block |
PCR for BCL-2 translocation t(14;18)(q32;q21) – Major breakpoint region |
EDTA PB / BM / Tissue Block |
JAK2 tyrosine kinase gene Val617Phe Mutation Screening |
EDTA PB/BM |
ZNF198/FGFR1 derived from PhNEG myeloproliferative disorder with t(8;13) |
EDTA PB/BM |
MLL/AF4 derived from ALL with t(4;11)(q21;q23) |
Fresh EDTA BM (preferable) / PB |
E2A/PBX1 derived from ALL with t(1;19)(q23;p13) |
Fresh EDTA BM (preferable) / PB |
TEL/AML1 derived from ALL with t(12;21)(p13;q22) |
Fresh EDTA BM (preferable) / PB |
BCR/ABL P190 (e1a2) derived from ALL with t(9;22)(q34;q11) |
Fresh EDTA BM (preferable) / PB |
AML1/ETO derived from AML with t(8;21)(q22;q22) |
Fresh EDTA BM (preferable) / PB |
CBFβ/MYH11 derived from AMLEso with inv(16)(p13;q22) |
Fresh EDTA BM (preferable) / PB |
MLL/AF9 derived from AML with t(9;11)(p22;q23) |
Fresh EDTA BM (preferable) / PB |
MLL/AF10 derived from AML with t(10;11)(p12;q23) |
Fresh EDTA BM (preferable) / PB |
PML/RARα derived from AML with t(15;17)(q22;q21) |
Fresh EDTA BM (preferable) / PB |
NPM1 mutation test |
Fresh EDTA BM (preferable) / PB |
BCR/ABL (b2a2 & b3a2) derived from CML with t(9;22)(q34;q11) |
Fresh EDTA BM (preferable) / PB |
Quantitative RT-PCR for BCR/ABL transcript (b2a2 & b3a2) |
Fresh EDTA PB (3 x 3 ml) |
Chronic Myelomonocytic Leukemia & Myelodysplastic Syndrome (CMML & MDS) |
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TEL/PDGFRβ derived from CMML / MDS with t(5;12)(q33;p13) |
Fresh EDTA BM (preferable) / PB |
FIP1L1/PDGFRα derived from CEL with an interstitial deletion on chromosome 4q12 |
Fresh EDTA BM (preferable) / PB |
FLT3-ITD mutation screening |
Fresh EDTA BM (preferable) / PB |
c-Kit exon 8 and 17 |
Fresh EDTA BM (preferable) / PB |
BCR/ABL tyrosine kinase domain |
Fresh EDTA BM (preferable) / PB |
Fluorescence In-situ Hybridization (FISH) Detection of Gene Fusion |
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BCR-ABL |
Fresh EDTA BM (preferable) / PB |
PML-RARα |
Fresh EDTA BM (preferable) / PB |
AML1-ETO |
Fresh EDTA BM (preferable) / PB |
TEL-AML1 |
Fresh EDTA BM (preferable) / PB |
MYH9 mutation screening (Exon 16, 26, 30, 38, 40) |
EDTA PB |
Tyrosine hydroxylase transcripts |
Fresh EDTA BM (preferable) / PB |
Fluorescence In-situ Hybridization (FISH) Detection of Chromosomal deletion & translocation for Multiple Myeloma |
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Tyrosine hydroxylase transcripts |
Fresh EDTA BM (preferable) / PB |
HLA-B*15:02 for carbamazepine prescription |
EDTA PB (3 mL) |
HLA-B*58:01 for allopurinol prescription |
EDTA PB (3 mL) |
Remarks: |
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1. Please send either 3 ml Bone Marrow or 6 ml Peripheral Blood in EDTA for molecular tests. Specimen should be sent before 3pm . |
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2. Please call 2632 3949 for advance booking for all the above tests. |
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10-5-2016