Parameter | Method | Sample Type | Purpose | Significance | TAT | Rates | |
---|---|---|---|---|---|---|---|
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 |