Department of Laboratory Sciences
Department of Laboratory Sciences
and Human Leukocyte Antigen (HLA) laboratory, which provide a comprehensive contamination-free environment and reliable assay results.
The nucleic acid extractions are performed manually by using the Trizol reagent as well as by the automated instruments; QiaSymphony® SP (Qiagen, Hilden, Germany) and QiaCube platforms. Our Facility has 5 thermal cyclers which are used for performing PCRs in molecular pathology as well as molecular microbiology: The thermal cyclers available are ThermoFisher® ABI ProFlex, ABI 9700, ABI Veriti, Bio-Rad® S1000 and Bio-Rad® C1000. The agarose gels run for various PCR & Reverse transcriptase PCR tests are documented using the BioRad® Gel Doc XR Plus System.
The quality and quantity of the extracted nucleic acids are checked by the NanoDrop™ 2000 Spectrophotometer, Invitrogen™ Qubit 3.0 Fluorometer and the Agilent™ Biotechnology 4200 TapeStation bioanalyzer. The downstream molecular assays are performed only after the samples pass the required quality / quantity parameters on the above instruments. The department is supplemented with 6 ThermoFisher Bio-Safety Class-II Cabinets, 6 bio-safety hoods, multiple Eppendorf refrigerated / non-refrigerated centrifuges and range of eppendorf micro-pipettes.
A variety of Real-Time PCR (RQ-PCR) and Sequencing (NGS) platforms are available in the Molecular Laboratory; the Real Time PCR instruments being ThermoFisher® ABI 7500, ThermoFisher® Quant Studio™ 3.0, Quant Studio™ 6.0 Qiagen® Rotor-Gene Q and Biorad® QX200™ Digital Droplet PCR. The 4 NGS platforms available at our Sequencing Facility are ThermoFisher® Ion Torrent PGM, ThermoFisher® Ion GeneStudio S5, Illumina® MiSeq and Qiagen® GeneReader NGS.
analysis / genetic counseling services relevant to the clinical profile, helping in the optimal management of patients and their families. The department has Memorandum of Understanding (MoU) with external genomics facilities which provide us with these molecular diagnostics services.
The departmental faculty participates in various extra-mural and intra-mural research projects pertaining to haematological malignancies, solid tumours, and clinical trials, which are funded by agencies like DBT-Wellcome Trust, Tata Trust, ICMR etc.
The department is enrolled in the External Quality Assessment programmes; UKNEQAS, EMQN and ILCPs for maintaining reliable and stringent quality control protocols. The department is a center-for-excellence under DCGI-CDSCO for performing various kit verifications / validations pertaining to solid and liquid malignancies.
TEACHING / TRAINING PROGRSMMES
TESTS PERFORMED IN MOLECULAR PATHOLOGY
|BCR-ABL1 Fusion Gene||EGFR Exon 18, 19, 20, 21 Mutation Analysis (RQ PCR / Sanger)|
|PML–RARA Fusion Gene||Cell free DNA EGFR Mutation Detection Assay (RQ PCR / ddPCR)|
|TCF3-PBX1 Fusion Gene||EGFR C797S Mutation Assay (ddPCR)|
|ETV6-RUNX1 Fusion Gene||c-KIT (Exon 9,11,13, 17) Mutation Analysis ( Sanger )|
|KMT2A-AFF1 Fusion Gene||PDGFRA (Exon 12, 18) Mutation Analysis ( Sanger )|
|CBFB-MYH11 Fusion Gene||Microsatellite Instability (MSI) Analysis ( Sanger )|
|RUNX1-RUNX1T1 Fusion Gene||Combined IDH 1 and 2 Gene Mutation Analysis ( NGS )|
|PDGFRA-FIP1L1 Fusion Gene||NRAS (Codon 12,13,61,141,146) Mutation Analysis ( Sanger )|
|Comprehensive Myeloid 69 Gene Panel (NGS)||KRAS (Codon 12,13,61,141,146) Mutation Analysis ( Sanger )|
|PML-RARA quantification (ddPCR)||RHOA (Exon 2 & 3) Mutation Analysis ( Sanger )|
|BCR ABL1 Quantitative (e13a2,e14a2,e1a2)||Ion Torrent 50 Gene Cancer Hot Spot Mutation Detection Panel CHPv2 (NGS)|
|BCR-ABL1 Kinase Domain Mutation Analysis||TERT Gene Promoter Mutation Analysis ( Sanger )|
|Chimerism Analysis||RET ( Exon 10,11,13,14,15 & 16) Analysis ( Sanger )|
|FLT3-ITD/ TKD (D835Y)Mutation Analysis (Sanger)||MGMT Promoter Methylation analysis ( RQ-PCR )|
|NPM1 Mutation Analysis (Sanger)||PIK3CA Mutation Analysis (RQ PCR)|
|CEBPA Mutation analysis (Sanger)||BRCA1/ 2 / TP53 / PTEN Mutation Analysis (NGS Panel)|
|c-Kit (Exon 8, 17) Mutation Analysis (Sanger)||TP53 (Exon 2-10) Mutation Analysis (Sanger)|
|NPM1 Quantification (ddPCR)||BRAF Exon 15 Mutation Analysis (Sanger)|
|p190 Quantification (ddPCR)||BRAF V600E Mutation Analysis (ddPCR)|
|MPN Reflex Panel (JAK2 V617F, JAK2 Exon 12, cMPL, CALR)||Outsourced Molecular Tests|
|Thiopurine methyltransferase (TPMT) G460A, A719G, G238C Polymorphism||Clinical Exome Sequencing for Rare Diseases (NGS)|
|MYD88 L265P / CXCR4 Mutation Analysis||Germline Hereditary Cancer Panel (NGS)|
|IGH Somatic Hypermutation / IGHV Mutation Analysis||DPD Mutation Analysis (RQ PCR)|
|T-Cell Receptor Gamma (TCR-G) Gene Rearrangement Analysis||Thalassemia Mutation Analysis|
|IGH Gene Clonality Analysis||Gilbert Syndrome Mutation Analysis|
|TP53 (Ex 2-10) Mutation analysis by (Sanger)||Glucose 6 Phosphate Dehydrogenase (G6PD) Mutation Analysis|
|BRAF V600E Mutation Analysis (ddPCR)|
|JAK2 V617F Mutation Analysis (ddPCR)|