Parameter Method Sample Type Significance

1

BRCA 1&2

PCR In- house

Blood

Prediction of inherited mutation in BRCA1/2 genes that may predict breast and ovarian cancer

2

BCR-ABL Quantitation (IC in international format)

Real time PCR

Blood/ Bone marrow

Quantification BCR-ABL fusion transcript b2a2,b2a3,b3a3,1a2,e1a3,e19a2,e19a3 against the reference gene Abl1.

3

BCR-AB-7 translocate

Real time PCR

Blood/ Bone marrow

Detection of breakpoints and mRNA splice variants for the 7 translocations

4

BCR-ABL 28 translocate and +145 breakpoints and splice variants

Real time PCR

Blood/ Bone marrow

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

5

PML-RARA mutation in AML/APL patients

Real time PCR

Blood/ Bone marrow

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

6

Imatinib Resistant mutation analysis in CML

Real time PCR

Blood

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.

7

Microsatellite instability testing in colorectal cancer

Real Time PCR

Tissue/ Blood

Microsatellite instability (MSI) is a molecular hallmark for certain colorectal cancers (CRCs) in which short tandem repeats are prone to mutations.

8

Renal cell Carcinoma (RCC)

PCR In- house

Blood

Confirmation of four major Autosomal dominantly inherited pathogenic germ line leading to RCC

9

Lung cancer -EGFR (18,19,20,21 exon mutation)

PCR In- house

Blood

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

10

Colon Cancer KRAS (codon 12, 13 mutation)

PCR In- house

Blood

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.

11

Colorectal Cancer KRAS(exon 4), NRAS (exon 2, 3)

PCR In- house

Blood

Detection of KRAS, NRAS mutations will help in Treatment decision-making in colorectal cancer

12

Bone marrow disorder (JAK 2 mutation)

PCR In- house

Blood

Mutations in JAK2 that are associated with bone marrow disorders caused by the production of too many blood cells

13

Multiple endocrine neoplasia type 1 (MEN1)

PCR In- house

Blood

 

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.

14

BRAFV600E mutation

PCR-Hybridization

Blood

Ultra-sensitive detection of BRAFV600E mutation

15

BRAF mutation

PCR-Hybridization

Blood

Ultra-sensitive detection of 9 BRAF mutations in codons 600 and 601

16

EGFR mutations (1 8/1 9/20/21)

PCR-Hybridization

Blood

Ultra-sensitive detection of 30 EGFR mutations in exons 1 8/1 9/20/21

17

KRAS mutations

PCR-Hybridization

Blood

Ultra-sensitive detection of 1 0 KRAS mutations in codons 12 and 13

18

KRAS-BRAF

PCR-Hybridization

Blood

Ultra-sensitive detection of 1 0 KRAS mutations in codons 1 2/1 3 and BRAFV600E mutation

19

KRAS XL

PCR-Hybridization

Blood

Ultra-sensitive detection of 29 KRAS mutations in codons 1 2/1 3/59/60/61/1 1 7/1 46

20

NRAS XL

PCR-Hybridization

Blood

Ultra-sensitive detection of 22 NBAS mutations in codons 1 2/1 3/59/60/61 /146

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: October 16, 2021
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