Genetic Testing-Oncology

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

9000

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

8000

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

20,000

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

25,000

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

5000

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

5000

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

5000

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

4500

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

5000

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

5000

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

15 days from the time of sample reception

5000

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

3000

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

9000

14

BRAFV600E mutation

PCR-Hybridization

Blood

Confirmation of BRAF

Ultra-sensitive detection of BRAFV600E mutation

2 Days

3780

15

BRAF mutation

PCR-Hybridization

Blood

Confirmation of BRAF

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

2 Days

6820

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

9160

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

8110

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

9410

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

8680

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

8470