| TEST NAME |
SPECIMEN / REQUIREMENT |
|
|
|
Thrombophilia Screening |
|
| Factor V Leiden mutation screening |
EDTA PB |
| Prothrombin G20210A mutation screening |
EDTA PB |
| Methylenetetrahydrofolate reductase gene C677T mutation screening |
EDTA PB |
|
Hereditary Haemochromatiosis Gene Mutation Screening |
|
| C282Y & H63D gene mutation |
EDTA PB |
|
Thalassaemia & Haemoglobinopathy Investigation |
|
| α-thalassaemia genotyping |
|
| α0-thalassaemia test 1 – [5 common deletions: --SEA, -(α)20.5, --MED, --FIL, and --THAI] |
EDTA PB |
| α+-thalassaemia test 2 – [-α3.7 and αααanti3.7] |
EDTA PB |
| α+-thalassaemia test 3 – [-α4.2 ] |
EDTA PB |
| α-thalassaemia test 4 – [α-globin gene DNA sequencing] |
EDTA PB |
| α-thalassaemia test 5 – [Hb Constant Spring and/or Hb Quong Sze mutation] |
EDTA PB |
|
|
| α-thalassaemia tests panel (Tests 1-5) |
|
| β-thalassaemia genotyping |
|
| 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 Gγ(Aγδβ)0 thalassaemia |
EDTA PB |
|
Lymphoproliferative Diseases (LPDs) |
|
| PCR for BCL-1 translocation t(11;14)(q13;q32) |
EDTA PB/BM/ Tissue BLK |
| PCR for BCL-2 translocation t(14;18)(q32;q21) – Major breakpoint region |
EDTA PB/BM/ Tissue BLK |
| IgH gene rearrangement (clonality assessment) |
EDTA PB/BM/ Tissue BLK |
| T-cell receptor gamma / beta gene rearrangement (clonality assessment) |
EDTA PB/BM/ Tissue BLK |
|
Myeloproliferative Diseases (MPDs) |
|
| JAK2 tyrosine kinase gene Val617Phe Mutation Screening |
EDTA PB/BM |
| ZNF198/FGFR1 derived from PhNEG myeloproliferative disorder with t(8;13) |
EDTA PB/BM |
|
Acute Lymphoblastic Leukaemia (ALL) |
|
| 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 derived from ALL with t(9;22)(q34;q11) |
Fresh EDTA BM (preferable) / PB |
|
Acute Myeloid Leukemia (AML) |
|
| 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 |
|
Chronic Meyloid Leukemia (CML) |
|
| 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) |
|
| TEL/PDGFRβ derived from CMML / MDS with t(5;12)(q33;p13) |
Fresh EDTA BM (preferable) / PB |
|
Chronic Eosinophilic Leukemia (CEL) |
|
| FIP1L1/PDGFRα derived from CEL with an interstitial deletion on chromosome 4q12 |
Fresh EDTA BM (preferable) / PB |
|
Tyrosine Kinase Mutation Screening |
|
| FLT3 D835 (Qualitative) |
Fresh EDTA BM (preferable) / PB |
| FLT3 D835 (Characterized) |
Fresh EDTA BM (preferable) / PB |
| FLT3 internal tandem duplication (Qualitative) |
Fresh EDTA BM (preferable) / PB |
| FLT3 internal tandem duplication (Characterized) |
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 |
|
| 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 |
|
Giant Platelet Syndrome |
|
| MYH9 mutation screening (Exon 16, 26, 30, 38, 40) |
EDTA PB |
|
Neuroblastoma Monitoring of Residual Disease |
|
| Tyrosine hydroxylase transcripts |
Fresh EDTA BM (preferable) / PB |
|
|
|
|
| Remarks: |
|
| 1. Please send either 3 ml Bone Marrow (BM), or 10 ml Periperal Blood (PB) in EDTA for |
| any molecular testings, and send it before 3pm within 4 hours collected. |
| 2. Please call 2632-3949 for advance booking for all the above tests. |
|
|
