MOLECULAR DIAGNOSIS OF LEUKEMIA

MOLECULAR DIAGNOSIS OF LEUKEMIA

MOLECULAR DIAGNOSIS OF LEUKEMIA
B5027 RTPCR for ALL

Qualitative analysis of fusion transcripts by Nested Reverse Transcriptase PCR (RT-PCR). Appropriate translocations are analyzed as required by clinical diagnosis and primary lab diagnosis.


Translocations Analyzed:

1. RTPCR for p210 BCR-ABL
2. RTPCR for p190 BCR-ABL
3. RTPCR for TEL-AML1,
4. RTPCR for MLL-AF4,
5. RTPCR for E2A-PBX
9 mL Peripheral blood or Bone marrow freshly drawn in EDTA (Purple top) tube.
B5045 RTPCR for APML / CML / AML / HES

Qualitative analysis of fusion transcripts by Nested Reverse Transcriptase PCR (RT-PCR). Appropriate translocations are analyzed as required by clinical diagnosis and primary lab diagnosis.


Translocations Analyzed:
1. RTPCR for p210 BCR-ABL for CML
2. RTPCR for p190 BCR-ABL for CML
3. RTPCR for PML-RARα (bcr 1,2,3) for APML
4. RTPCR for PLZF-RARα and NuMA-RARα for APML
5. RTPCR for AML-ETO for AML
6. RTPCR for Inversion-16 (CBFB-MYH11) for AML
7. RTPCR for FIP1L1-PDGFRA in hyper eosinophilic syndrome (HES)
9 mL Peripheral blood or Bone marrow freshly drawn in EDTA (Purple top) tube.  
B5059 ABL KINASE DOMAIN MUTATION

Screening of BCR-ABL Kinase Domain mutations by Sanger sequencing.

9 mL Peripheral blood or Bone marrow freshly drawn in EDTA (Purple top) tube.
B5053 REAL-TIME RT PCR (RQ PCR)

Quantitative analysis of fusion transcripts by quantitative real time PCR

(RNA Based)
1. RQ PCR - p210 (b3a2, b2a2) and P190 (e1a2) BCR-ABL fusion transcripts in CML
2. RQ PCR - p210 - p210 (b3a2, b2a2) and P190 (e1a2) BCR-ABL fusion transcripts in ALL
9 mL Peripheral blood or Bone marrow freshly drawn in EDTA (Purple top) tube.
B5057 LD PCR for BURKITT’S

Analysis for t(8:14) (cMYC-IgH) translocation in Burkitt’s Lymphoma by

Long distance PCR (DNA based)
9 mL Peripheral blood in EDTA (Purple top) tube. Stored at 4°C.
B5067 NPM1 & FLT3-ITD, FLT3-TKD Mutations for AML

1. NPM1 Exon 12 mutations and FLT3 - Internal tandem duplication (ITD) by multiplex PCR and gene scan.
2. FLT3 - Tyrosine Kinase domain mutation (TKD) by PCR and RFLP.
9 mL Peripheral blood in EDTA (Purple top) tube. Stored at 4°C.
B5072 C-KIT Mutations SCREENING

Mutations screening of C-KIT Exons 8 & 17 for AML and Systemic Mastocytosis.
9 mL Peripheral blood in EDTA (Purple top) tube. Stored at 4°C.
B5090 MPN - Myeloproliferative Neoplasm Mutations panel

Panel of MPN Mutations done as required by clinical diagnosis and primary lab diagnosis:
1. JAK2 - V617F mutation screening by allele specific PCR.
2. JAK2 - exon12 mutation screening by DNA Sequencing
3. CALR mutation screening by PCR and Genescan
4. MPL mutations screening by allele specific PCR.
9 mL Peripheral blood in EDTA (Purple top) tube. Stored at 4°C.
B5091 BRAF Mutation analysis.
BRAF V600E mutation analysis for Hairy Cell Leukemia.
9 mL Peripheral blood in EDTA (Purple top) tube. Stored at 4°C.
B5065 TPMT POLYMORPHISM SCREENING
The following TPMT Polymorphisms are screened in our lab:
1. A719G Polymorphism screening by PCR and RFLP.
2. G238C Polymorphism screening by allele specific PCR.
3. G460A Polymorphism screening by PCR and RFLP
9 mL Peripheral blood in EDTA (Purple top) tube. Stored at 4°C.
B5072 GATA1 Mutation screening

Screening of GATA1 Exon2 mutations in Down syndrome associated transient myeloproliferative disorder (TMPD) and myeloid leukemia by DNA Sequencing.

9 mL Peripheral blood in EDTA (Purple top) tube. Stored at 4°C.


The following tests are under validation and will be introduced soon in the laboratory

  • TP53 mutation analysis
  • DNMT3A mutation analysis in AML
  • IDH1 and IDH2 mutation analysis in AML
  • IKZF1 deletions in ALL
  • Comprehensive customized mutation panel for AML prognostication by NGS