Haematology/ Haemato-oncology
Tests applicable to Individuals who fall in one or more of the categories mentioned below.
1. Members of families with a history of cancer.
2. Cancer patients who may benefit from pharmacotherapeutic guidance and stratification for prognosis.
3. Early onset breast cancer or triple negative breast cancer.
4. Early onset colon, ovarian, renal, lung cancer, etc.
5. Patients diagnosed with multiple primary cancers.
6. Patients with an identified hereditary cancer syndrome.
| 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 |