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Haematology/ Haemato-oncology

Test No. Test Name Analytical Technique Sample required TAT
HAEQPC033 BCR-ABL t(9;22) translocation (Philadelphia Chromosome) Major (p210) quantitative (MRD) Reverse Transcription Taqman real time PCR Blood/ Bone marrow in EDTA 2 days
HAEQPC200 BCR-ABL Diagnostic Panel for CML (Major/e13a2/e14a2; reflex testing of 13 variants e14a3, e1a2, e1a3, e19a2, e6a2, e8a2 etc) and reflex to BCR-ABL FISH Reverse Transcription Taqman real time PCR, FISH (reflex) Blood/ Bone marrow in EDTA and Heparin 3-7 days
HAEQPC400 BCR-ABL-Any one of Minor p190 e1/a2, Micro p230 e19/a2, Variant e1/a3 translocation semi-quantitative (only when initial diagnosis done at GenePath Diagnosis) Reverse Transcription Taqman real time PCR Blood/ Bone marrow in EDTA 4 days
HAENGS338 BCR-ABL Tyrosine Kinase inhibitor resistance mutations (IRMA) including BCR-ABL quantitation NGS Blood/ Bone marrow in EDTA 4-5 weeks
HAEQPC035 Acute Lymphoblastic Leukemia (ALL) common translocations qualitative panel (BCR-ABLt(9;22), E2A-PBX2t(1;19), TEL-AML t(12;21), MLL-AF4 t(4;11)) Reverse Transcription Taqman real time PCR Blood/ Bone marrow in EDTA 2 days
HAEQPC401 Any one of BCR-ABL t(9;22), E2A-PBX2 t(1;19), TEL-AML t(12;21), MLL-AF4 t(4;11) translocations semi-quantitative (suggested only when initial diagnosis was carried out at GenePath Dx) Reverse Transcription Taqman real time PCR Blood/ Bone marrow in EDTA 4 days
HAEQPC164 Acute Myeloid Leukemia (AML) common translocations / inversion qualitative panel (ML1-ETO/em>, t(8;21), CBFB-MYH11 inv(16), PML-RARA t(15;17)) Reverse Transcription Taqman real time PCR Blood/ Bone marrow in EDTA 2 days
HAEQPC163 Acute Promyelocytic Leukemia (APML) PML-RARA t(15,17) translocation qualitative Reverse Transcription Taqman real time PCR Blood/ Bone marrow in EDTA 1 day
HAEQPC376 Acute Promyelocytic Leukemia (APML) PML-RARA t(15,17) translocation semi-quantitative Reverse Transcription Taqman real time PCR Blood/ Bone marrow in EDTA 1 day
HAEQPC402 Any one of ML1-ETO t(8;21), CBFB-MYH11 inv(16) translocations semi-quantitative (suggested only when initial diagnosis was carried out at GenePath Dx) Reverse Transcription Taqman real time PCR Blood/ Bone marrow in EDTA 4 days
HAENGS189 FLT3 D835 - AML Prognostic Markers CE-Seq Blood/ Bone marrow in EDTA 5 days
HAEFRG394 FLT3 ITD - AML Prognostic Marker AFLP/ Fragment Analysis Blood/ Bone marrow in EDTA 5 days
HAEFRG184 NPM1 exon 12 insertions and deletions - AML Prognostic Marker AFLP/ Fragment Analysis Blood/ Bone marrow in EDTA 5 days
HAENGS182 WT1 sequence analysis (exons 7 and 9) - AML Prognostic Markers NGS Blood/ Bone marrow in EDTA 4-5 weeks
HAEQPC137 JAK2 (V617F) ARMS real time PCR Blood/ Bone marrow in EDTA 2 days
HAENGS382 JAK2 (V617F) Quantitative by NGS NGS Blood/ Bone marrow in EDTA 4-5 weeks
HAENGS336 Advanced Philadelphia -negative Chronic Myeloproliferative disorder panel [JAK2 (exon 12, 14), MPL (exon 10), CALR (exon 9)] High Depth Sequencing NGS Blood/ Bone marrow in EDTA 4-5 weeks
HAEPNG381 Advanced Philadelphia negative Chronic Myeloproliferative disorder REFLEX panel [JAK2 V617F PCR reflexing to JAK2MPL (exon 10), CALR (exon 9) by NGS] ARMS real time PCR, NGS Blood/ Bone marrow in EDTA 3-4 weeks
HAENGS388 MYD88 quantitative mutation detection for Waldenstrom Macroglobulinemia NGS Bone marrow in EDTA, FFPE block/ Fresh tissue 4-5 weeks
HAENGS384 MYD88 and CXCR4 mutation detection for Waldenstrom Macroglobulinemia NGS Bone marrow in EDTA, FFPE block/ Fresh tissue 4-5 weeks
HAENGS187 UGT1A1 Promoter Sequencing for Gilbert's syndrome common mutations and Irinotecan toxicity NGS Blood in EDTA 4-5 weeks
HAEQPC133 Factor V Leiden (FVL R506Q/ G1691A) mutation analysis ARMS real time PCR Blood in EDTA 2 days
HAEQPC134 Factor II / Prothrombin (FII G20210A) mutation analysis CE-Seq Blood in EDTA 10 days
HAENGS152 MTHFR two common mutations (A222V/C677T + E429A/A1298C) NGS Blood in EDTA 4-5 weeks
HAEQPC138 Thrombophilia common mutations panel (FVL G1691A, FII G20210A, MTHFR C677T + A1298C) ARMS real time PCR, CE-Seq, NGS Blood in EDTA 4-5 weeks
HAENGS337 Full HBB gene sequencing for Beta Thalassemia by Next Generation Sequencing NGS Blood in EDTA, Cheek swab 4-5 weeks
HAEPCR396 Detection of IVS1-5 G>C mutation in HBB gene ARMS real time PCR Blood in EDTA, Antenatal sample 2-3 days
HAESEQ031 Targeted (known) mutation detection in HBB gene with testing for Maternal Cell Contamination (MCC) for Prenatal samples CE-Seq/ ARMS PCR + Fragment analysis Antenatal sample (CVS, Amniotic Fluid) 10 days
HAESEQ342 Sickle cell anemia (Capillary Sequencing) CE-Seq Blood in EDTA 2 weeks
HAESEQ343 Sickle cell anemia (Hb Electrophoresis + Capillary Sequencing) Hb Electrophoresis, CE-Seq Blood in EDTA 2 weeks
HAESEQ397 Targeted (known) sequencing in HBB gene for Beta Thalassemia CE-Seq Blood in EDTA 2 weeks
HAEMLP344 Alpha Thalassemia (Alpha globin/ HBA gene deletions) by MLPA MLPA Blood in EDTA 10 days
HAEMLP345 Alpha globin gene (HBA) triplication by MLPA MLPA Blood in EDTA 10 days
HAEMLP385 MLPA for Delta-Beta Thalassemia, Gamma Thalassemia MLPA Blood in EDTA 10 days
HAEQPC212 Haemochromatosis (Common mutations H63D and C282Y in the HFE gene) ARMS real time PCR Blood in EDTA 7 days
HAENGS230 Next Generation Sequencing Panel for Fanconi Anemia (FANCL, FANCD2, FANCE, FANCG, FANCC, FANCF, BRCA2, FANCI, SLX4, ERCC4, PALB2, FANCA, RAD51C, BRIP1, FANCB) NGS Blood in EDTA 4-5 weeks