Parameter Method Sample Type Purpose Significance TAT
1 BRCA 1&2 PCR In- house Blood Confirmation of mutation in BRCA1 and BRCA 2 Prediction of inherited mutation in BRCA1/2 genes that may predict breast and ovarian cancer 15 days from the time of sample reception
2 BCR-ABL Quantitation (IC in international format) Real time PCR Blood/ Bone marrow Detection of fusion transcript Quantification BCR-ABL fusion transcript b2a2,b2a3,b3a3,1a2,e1a3,e19a2,e19a3 against the reference gene Abl1. 15 days from the time of sample reception
3 BCR-AB-7 translocate Real time PCR Blood/ Bone marrow Detection of breakpoints and mRNA splice variants for the 7 translocations Qualitative detection of the 7 most frequent leukemia causing chromosomal translocations including more than 40 breakpoints plus associated mRNA splice variants 15 days from the time of sample reception
4 BCR-ABL 28 translocate and +145 breakpoints and splice variants Real time PCR Blood/ Bone marrow Detection of breakpoints and mRNA splice variants for the 28 translocations Qualitative detection for 28 leukemia causing chromosomal translocations including more than 145 breakpoints plus associated mRNA splice variants. Furthermore, it detects new breakpoints and mRNA splice variants for the 28 translocations 15 days from the time of sample reception
5 PML – RARA mutation in AML/APL patients Real time PCR Blood/ Bone marrow Detection of PML-RARA mutation Diagnosis of acute promyelocytic leukemia (APL) / residual or recurrent APL /Monitoring the level of promyelocytic leukemia/retinoic acid receptor alpha (PML/RARA) in APL patients 15 days from the time of sample reception
6 Imatinib Resistant mutation analysis in CML Real time PCR Blood Confirmation of Imatinib resistance mutation Identify the pattern of mutations, so that second line tyrosine kinase inhibitors’ response may be studied with respect to these mutations and new drugs can be designed concentrating on the most common mutations. 15 days from the time of sample reception
7 Microsatellite instability testing in colorectal cancer Real Time PCR Tissue/ Blood Detection of microsatellite instability Microsatellite instability (MSI) is a molecular hallmark for certain colorectal cancers (CRCs) in which short tandem repeats are prone to mutations. 15 days from the time of sample reception
8 Renal cell Carcinoma (RCC) PCR In- house Blood Detection of mutation that leads to RCC Confirmation of four major Autosomal dominantly inherited pathogenic germ line leading to RCC 15 days from the time of sample reception
9 Lung cancer -EGFR (18,19,20,21 exon mutation) PCR In- house Blood Confirmation of germline mutation in EGFR gene exon 18,19,20,21 Overexpression and oncogenic mutations that constitutively activate the TK domain of EGFR have been found in various solid tumors. The test helps in detection of mutation that leads to lung cancer 15 days from the time of sample reception
10   Colon Cancer KRAS (codon 12, 13 mutation) PCR In- house Blood Confirmation of germline mutation in KRAS gene Codons 12 and 13 that leads to the condition KRAS mutations have been commonly found in several types of human malignancies, such as metastatic colon cancer (mCRC), lung adenocarcinoma and thyroid cancer. The most common mutations are found in codons 12 and 13 of KRAS. 15 days from the time of sample reception
11 Colorectal Cancer KRAS(exon 4), NRAS (exon 2, 3) PCR In- house Blood Confirmation of KRAS exon 4 (codon 146) mutation testing and NRAS exon 2 (codons 12/13) and exon 3 (codon 61) mutation testing for detection of colorectal cancer Detection of KRASNRAS mutations will help in Treatment decision-making in colorectal cancer   15 days from the time of sample reception
12 Bone marrow disorder (JAK 2 mutation) PCR In- house   Blood Detection of JAK 2 that leads to bone marrow disorder Mutations in JAK2 that are associated with bone marrow disorders caused by the production of too many blood cells   15 days from the time of sample reception
13 Multiple endocrine neoplasia type 1 (MEN1) PCR In- house Blood Detection of mutation in 10 major exons in MEN 1 gene Multiple endocrine neoplasia (MEN1) is an autosomal dominant syndrome that leads to tumor development in parathyroid, pancreatic and pituitary glands. Genetic analysis will help in early treatment. 15 days from the time of sample reception
14 BRAFV600E mutation PCR-Hybridization Blood Confirmation of BRAF Ultra-sensitive detection of BRAFV600E mutation 2 Days
15 BRAF mutation PCR-Hybridization Blood Confirmation of BRAF Ultra-sensitive detection of 9 BRAF mutations in codons 600 and 601 2 Days
16 EGFR mutations (1 8/1 9/20/21) PCR-Hybridization Blood Confirmation of EGFR XL Ultra-sensitive detection of 30 EGFR mutations in exons 1 8/1 9/20/21 2 Days
17 KRAS mutations PCR-Hybridization Blood Confirmation of KRAS mutations Ultra-sensitive detection of 1 0 KRAS mutations in codons 12 and 13 2 Days
18 KRAS-BRAF PCR-Hybridization Blood Confirmation of KRAS-BRAF Ultra-sensitive detection of 1 0 KRAS mutations in codons 1 2/1 3 and BRAFV600E mutation 2 Days
19 KRAS XL PCR-Hybridization Blood Confirmation of KRAS mutations Ultra-sensitive detection of 29 KRAS mutations in codons 1 2/1 3/59/60/61/1 1 7/1 46 2 Days
20 NRAS XL PCR-Hybridization Blood Confirmation of NRAS XL Ultra-sensitive detection of 22 NBAS mutations in codons 1 2/1 3/59/60/61 /146 2 Days

Contact

Rajiv Gandhi Centre for Biotechnology (RGCB),
Thycaud Post, Poojappura,
Thiruvananthapuram - 695 014, Kerala, India
+91-471-2529400 | 2347975 | 2348753
+91-471-2348096
webmaster@rgcb.res.in

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Last Updated on: September 22, 2020
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