| 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 |
