MOLECULAR LABORATORY

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Molecular Laboratory

Overview

Molecular diagnostics at RGCIRC is a NABL accredited laboratory developed under the leadership of Dr Anurag Mehta. It is one of the most dynamic and transformative departments with interplay of genomic knowledge, laboratory medicine and state of art technology. Molecular laboratory menu has steadily grown in all applications ranging from infectious disease, genetic, and oncology testing. It currently offers more than 100 tests (Directory of Services). This varied portfolio is realized by diverse complex machinery facilitating tests for solid organ and hematological malignancies. The available testing platforms range from real time PCR for single gene testing, Fluorescent In situ Hybridization, Pyrosequencing, Sanger sequencing for miscellaneous applications including tests based on fragment length analysis to high throughput Next Generation sequencing for genetic predisposition, tumor specific panels, tumor mutation burden and liquid biopsy. Laboratory maintains robust external and internal quality assurance programs in the face of emerging technologies, and an evolving regulatory landscape of Precision Medicine biomarkers.

Knowledge Centre

Special Features:

Cancer occurs by interplay of environment, lifestyle and a minor component of susceptibility in 85% of patients. In minority of individuals with ovarian cancer (~14%) or breast cancer (approximately 5%) or prostate cancer (~ 5%) or pancreatic cancer (~ 5%) the mutation in the BRCA1 or BRCA2 gene plays an all-important and overarching role. People with BRCA mutations have a lifetime risk of developing these cancers as given in Table below.

Cancer Type	Germline BRCA1 mutated	Germline BRCA2 mutated	No. of times the risk in Germline BRCA mutated population
Breast Cancer Female	70%	40%	4-5 folds
Ovarian Cancer	50%	30%	30 folds
Breast Cancer Male	1.20%	6.8%	50 folds
Prostate Cancer	2%	5%	3-8.6 folds
Pancreatic Cancer	1%	1%	2-4 folds

BRCA testing is recommended for all patients of ovarian cancer, some patients of Breast cancers, all patients with metastatic prostate and pancreatic cancers. It is important to identify if cancer is due to a BRCA1 or BRCA2 mutation because it provides you and your doctors with information that can help treat your cancer and to reduce your risk of future cancer. In addition, BRCA testing is also recommended for First Degree Relatives from 3 generations of a breast / ovarian/ pancreatic/prostate cancer patient with BRCA mutation to identify mutation carriers and encourage them to adopt risk-reducing strategies

Test Menu

HAEMATOLOGY	INFECTIOUS DISEASES	SOLID ORGAN MALIGNANCIES
Acute Myeloid Leukemia Translocation Extended Panel	Quantitative Test for HBV	BRAF Mutation Analysis By Real Time Qualitative PCR
TPMT Genotyping	Quantitative Test for HCV	NRAS & KRAS Mutation Testing By Real Time Quantitative PCR
Quantitative PCR for detection of PML-RARA	Quantitative Test for BKV	EGFR exon18-20 mutational analysis by Cobas RT-PCR
Qualitative PCR for JAK2 exon 12/14	Quantitative Test for CMV	PIK3CA mutational analysis by RT-PCR
Comprehensive Myeloid Panel-NGS	Quantitative Test for EBV	DPYD genetic testing by PCR
MYD88 p.L265P Mutation Analysis		POLE mutational analysis by DD-PCR
NPM1 MRD monitoring by RT-PCR		Microsatellite Instability Testing
VNTR chimerism analysis		MET exon 14 skipping by Gel electrophoresis
FISH testing for BMT sex mismatch XY chimerism		Methylation studies by pyrosequencing MLH1 MGMT
FISH testing: Break apart for c-myc BCL2 BCL6		GIST hotspot panel
Fish : RARA Break apart		Extended Solid Tumor Panel-NGS
Myeloma panel (FISH)		Comprehensive 161 gene panel -NGS
CLL panel (FISH)		All comprehensive 550 gene panel (including TMB+MSI)
BCR-ABL1 FISH Quantitative PCR		HRD testing
		FISH testing: Break apart for TFE3/TFEB Synovial sarcoma Ewings/ ewings sarcoma like USP6 FOXO1 RET/ROS1/ALK HER2/MET/N-MYC amplification