MOLECULAR GENETIC TESTS

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Plot # 6-3-347/9 | D No: 204 | Riviera Buildings | Behind Model House, Dwarakapuri Colony | Punjagutta | Hyderabad - 500 082 Tel: 040-2335 0551 | Email: [email protected] | www.genesnlife.com

CANCER GENETIC TESTS Dear Doctor, We are please to produce largest array of Oncogene-DX (Molecular Diagnostic Tests) for Cancers.

MOLECULAR GENETIC TESTS Mutation Tests Test Code G1S001

Test Name

Disease

Method

Sample Type

TAT

BRAF Mutation Analysis

Papillary Thyroid (45%)

PCR & SEQ

ST: FFPE or Tumor Tissue or FNA HC: 5 ml Blood or 3 ml Bone marrow

5-7 Days

Colorectal (40-50%) NSCLC (15-25%)

PCR & SEQ

FFPE or Tumor Tissue or FNA

5-7 Days

[V600E]

Melanoma (60-80%) Hairy Cell Leukemia (100%) Colorectal (5-22%) Serous Ovarian (26%) Non-small cell lung cancer (NSCLC) (1-3%)

G1S002

KRAS Mutation Analysis [Exon 2 - Codons 12 and 13]

G1S003

BRAF and KRAS Mutation Analysis Panel

Tumors resistant to EGFR inhibitors

PCR & SEQ

FFPE or Tumor Tissue or FNA

5-7 Days

G1S004

EGFR Mutation Analysis

NSCLC (35-50% in Asians) Colorectal (12%) Esophageal (11%)

PCR & SEQ

FFPE or Tumor Tissue or FNA

5-7 Days

PCR & SEQ

5ml Blood or 3ml Bone marrow in EDTA Vacutainer (Purple Cap)

5-7 Days

[V617F]

Polycythemia vera (65-97%) Essential thrombocythemia (23-57%)Myelofibrosis (35-57%)

AKT1 Mutation Analysis

Breast (4%) Colorectal (1-6%) NSCLC (1%)

PCR & SEQ

5ml Blood or 3ml Bone marrow in EDTA Vacutainer (Purple Cap)

5-7 Days

[Exon 18, 19, 20, & 21]

G1S005

G1S006

JAK2 Mutation Analysis

[E17K]

G1S007

IDH1 & IDH2 HotSpot Mutation Analysis

Gliomas (70-76%) Acute myeloid leukemia (6-23%)

PCR & SEQ

ST: FFPE or Tumor Tissue or FNA HC: 5 ml Blood or 3 ml Bone marrow

5-7 Days

G1S008

PIK3CA Mutation Analysis

Breast (18-40%) Colorectal (13-32%) Gastric (Stomach) (7-25%) Brain (27%) Lung (1-3%) Ovarian (9%)

PCR & SEQ

FFPE or Tumor Tissue or FNA

5-7 Days

Gastrointestinal stromal tumors (7082%)

PCR & SEQ

FFPE or Tumor Tissue or FNA

5-7 Days

[Exon 9 and 20]

G1S009

KIT Mutation Analysis [Exon 9 and 11]

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Plot # 6-3-347/9 | D No: 204 | Riviera Buildings | Behind Model House, Dwarakapuri Colony | Punjagutta | Hyderabad - 500 082 Tel: 040-2335 0551 | Email: [email protected] | www.genesnlife.com

CANCER GENETIC TESTS G1S010

PDGFRA Mutation Analysis

Gastrointestinal stromal tumors (5%)

PCR & SEQ

FFPE or Tumor Tissue or FNA

5-7 Days

[D842V]

G1S011

KIT and PDGFRA Mutation Panel

Gastrointestinal stromal tumors

PCR & SEQ

FFPE or Tumor Tissue or FNA

5-7 Days

G1S012

PTEN Target Mutation Analysis

Breast Cancer (7%)

PCR & SEQ

FFPE or Tumor Tissue or FNA

5-7 Days

MEN2A and MEN2B (90%)

PCR & SEQ

FFPE or Tumor Tissue or FNA. 5ml Blood for family screening

5-7 Days

Parathyroid tumors, pancreatic tumors, and pituitary tumors

PCR & SEQ

FFPE or Tumor Tissue or FNA. 5ml Blood for family screening

14 Days

Pheochromocytomas (PHEOs) and paragangliomas (PGLs) (25%)

PCR & SEQ

FFPE or Tumor Tissue or FNA. 5ml Blood for family screening

14 Days

[R159S, R233, K267]

G1S013

Medullary Thyroid Carcinoma Mutation Test [RET- Exon 11 & 16]

G1S014

MEN1 Screening Test [Entire coding exons screening]

G1S015

SDHB and SDHD Screening Test (Paragangliomas & Pheochromocytomas)

G1S016

RET, SDHB and SDHD Genes Panel Test

Pheochromocytomas (PHEOs) and paragangliomas (PGLs)(25%)

PCR & SEQ

FFPE or Tumor Tissue or FNA. 5ml Blood for family screening

14 Days

G1S017

NPM1 Mutation Analysis

Acute myeloid leukemia (25-35%)

PCR & SEQ

5ml Blood or 3ml Bone marrow in EDTA Vacutainer (Purple Cap)

5-7 Days

Acute myeloid leukemia (15%)

PCR & SEQ

5ml Blood or 3ml Bone marrow in EDTA Vac

5-7 Days

PCR & SEQ

5ml Blood or 3ml Bone marrow in EDTA Vac

5-7 Days

[Exon 12]

G1S018

FLT3 Mutation Analysis [ITD & D835]

G1S019

G1S020

NPM1 and FLT3 Mutation Panel

Acute myeloid leukemia

GNAS Mutation Analysis

Multiple tumors (adrenocortical, pituitary, pancreatic, renal, large intestine and testis)

PCR & SEQ

FFPE or Tumor Tissue or FNA

5-7 Days

Screening for risk of developing Breast cancer or Ovarian Cancer

PCR & SEQ

FFPE or Tumor Tissue or FNA. 5ml Blood for family screen

30 days

Predict response to EGFR-targeted immunotherapy in patients with metastatic colorectal cancer

PCR & SEQ

FFPE or Tumor Tissue or FNA

5-7 Days

[Exon 8 & 9]

G1S021

BRCA1 & BRCA2 Mutation Analysis [Sequencing of Coding Exons]

G1S022

(Purple Cap)

Colorectal Cancer Mutation Panel

(KRAS, PIK3CA, BRAF, NRAS)

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(Purple Cap)

Plot # 6-3-347/9 | D No: 204 | Riviera Buildings | Behind Model House, Dwarakapuri Colony | Punjagutta | Hyderabad - 500 082 Tel: 040-2335 0551 | Email: [email protected] | www.genesnlife.com

CANCER GENETIC TESTS G1S023

Lung Cancer Mutation Panel (EGFR, KRAS, ALK)

Prognostic and therapeutic consequences in non-small cell lung cancer (NSCLC)

PCR, SEQ & FISH

FFPE or Tumor Tissue or FNA

5-7 Days

G1S024

Familial Colorectal Cancer (MSI, APC, MYH)

Familial Colorectal Cancer, Familial Adenomatous Polyps

PCR, SEQ & FISH

FFPE or Tumor Tissue or FNA

5-7 Days

G1S025

Thyroid Cancer Panel (BRAF, RAS, RET/PTC & PAX8/PPARg

Thyroid cancer

PCR, SEQ & FISH

FFPE or Tumor Tissue or FNA

5-10 Days

G1R026

PML-RARA t(15;17) Qualitative

Acute Myeloid Leukemia

G1R027

PML-RARA t(15;17) Quantitative

G1R028

PCR

5 ml Blood or 3 ml Bone marrow

5 Days

Acute Myeloid Leukemia Monitor treatment response Monitor minimal residual disease

RT-PCR

5 ml Blood or 3 ml Bone marrow in EDTA

5 Days

AML1-ETO t(8;21) Qualitative

Acute Promyelocytic Leukemia

PCR

5 ml Blood or 3 ml Bone marrow in EDTA

5 Days

G1R029

AML1-ETO t(8;21) Quantitative

Acute Promyelocytic Leukemia Monitor treatment response Monitor minimal residual disease

RT-PCR

5 ml Blood or 3 ml Bone marrow in EDTA

5 Days

G1R030

CBFB-MYH11 inv(16) Qualitative

AML with abnormal eosinophils

PCR

5 ml Blood or 3 ml Bone marrow in EDTA

5 Days

G1RO31

CBFB-MYH11 inv(16) Quantitative

RT-PCR

5 ml Blood or 3 ml Bone marrow in EDTA

5 Days

G1R032

AML Panel Quantitative

RT-PCR

5 ml Blood or 3 ml Bone marrow in EDTA

5 Days

G1R033

BCR-ABL t(9:22) Qualitative

Chronic Myelogenous Leukemia (CML), B-lymphoblastic leukemia (B-ALL) diagnosis

PCR

5 ml Blood or 3 ml Bone marrow in EDTA

5 Days

G1R034

BCR-ABL t(9:22) Quantitative

Chronic Myelogenous Leukemia (CML), B-lymphoblastic leukemia (B-ALL) diagnosis and monitoring of residual disease

RT-PCR

5 ml Blood or 3 ml Bone marrow in EDTA

5 Days

G1R035

E2A-PBX1 t(1;19) Qualitative

Minimal residual disease (MRD) diagnosis of ALL

PCR

5 ml Blood or 3 ml Bone marrow in EDTA

5 Days

G1R036

E2A-PBX1 t(1;19) Quantitative

Minimal residual disease (MRD) diagnosis of ALL

RT-PCR

5 ml Blood or 3 ml Bone marrow in EDTA

5 Days

G1R037

MLL-AF4 t(4;11) Qualitative

MRD, detection and prognostic indicator for ALL

PCR

5 ml Blood or 3 ml Bone marrow in EDTA

5 Days

G1R038

MLL-AF4 t(4;11) Quantitative

MRD, detection and prognostic indicator for ALL

RT-PCR

5 ml Blood or 3 ml Bone marrow in EDTA

5 Days

G1R039

TEL-AML1 t(12;21)

MRD, detection and prognostic indicator for ALL

PCR

5 ml Blood or 3 ml Bone marrow in EDTA

5 Days

AML with abnormal eosinophils Monitor effectiveness of treatment Monitor minimal residual disease Acute Myeloid Leukemia Monitor treatment response Monitor minimal residual disease

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Plot # 6-3-347/9 | D No: 204 | Riviera Buildings | Behind Model House, Dwarakapuri Colony | Punjagutta | Hyderabad - 500 082 Tel: 040-2335 0551 | Email: [email protected] | www.genesnlife.com

CANCER GENETIC TESTS Qualitative

G1R040

TEL-AML1 t(12;21) Quantitative

MRD, detection and prognostic indicator for ALL

RT-PCR

5 ml Blood or 3 ml Bone marrow in EDTA

5 Days

G1R041

ALL Panel

MRD, diagnosis and prognostic indicator for ALL

RT-PCR

5 ml Blood or 3 ml Bone marrow in EDTA

5 Days

G3S003

SPINK1 Mutation Analysis

Chronic Pancreatitis

PCR & SEQ

5ml Blood EDTA Vacutainer (Purple cap)

5-7 Days

G3S004

Chronic Pancreatitis Mutation Panel-1 (SPINK1 & PRSS1) Chronic Pancreatitis Mutation Panel-2 (SPINK1, PRSS1, CFTR, CTSB & CTRC)

Chronic Pancreatitis

PCR & SEQ

5ml Blood EDTA Vacutainer (Purple cap)

5-7 Days

Chronic Pancreatitis

PCR & SEQ

5ml Blood EDTA Vacutainer (Purple cap)

5-7 Days

[N34S]

G3S004

MOLECULAR CYTOGENETIC TESTS Test Code

Test Name

Disease

Method

Sample Type

TAT

GF012

BCR-ABL Translocation (9;22)

CML, AML or Ph-positive ALL

FISH

8ml Blood or 3ml Bone marrow in Heparin Vac (Green Cap)

5 Days

GF013

PML-RARA Translocation (15;17)

Acute promyelocytic leukemia (APL)

FISH

8ml Blood or 3ml Bone marrow in Heparin Vac (Green Cap)

5 Days

GF014

AML-ETO Translocation (8;21)

AML (5-12%), predominantly in younger patients.

FISH

8ml Blood or 3ml Bone marrow in Heparin Vac

5 Days

(Green Cap)

GF015

IGH-MYC Translocation (8;14)

Burkitt lymphoma from other lymphomas

FISH

ST: FFPE or Tumor Tissue or FNA HC: 5 ml Blood or 3 ml Bone marrow

5 Days

GF016

IGH-CCND1 Translocation (11;14)

Non-Hodgkin lymphoma, multiple myeloma.

FISH

ST: FFPE or Tumor Tissue or FNA HC: 5 ml Blood or 3 ml Bone marrow

5 Days

GF017

FISH for X/Y (Post BMT)

As a follow up after bone marrow transplantations

FISH

5 ml Blood or 3 ml Bone marrow Heparin Vac (Green Cap)

5 Days

GF018

MLL Break apart 11q23

Acute Lymphoblastic Leukemia & Acute Myelogenous Leukemia

FISH

5 ml Blood or 3 ml Bone marrow Heparin Vac (Green Cap)

5 Days

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Plot # 6-3-347/9 | D No: 204 | Riviera Buildings | Behind Model House, Dwarakapuri Colony | Punjagutta | Hyderabad - 500 082 Tel: 040-2335 0551 | Email: [email protected] | www.genesnlife.com

CANCER GENETIC TESTS GF019

7q22/7q36 Probe

Myelodysplastic Syndromes & AML

FISH

5 ml Blood or 3 ml Bone marrow Heparin Vac (Green Cap)

5 Days

GF020

P53 Probe – 17p13 Amplification

Chronic Lymphocytic Leukemia

FISH

5 ml Blood or 3 ml Bone marrow Heparin Vac (Green Cap)

5 Days

GF021

DLEU / TP53 – 13q14/17p13

Chronic Lymphocytic Leukemia & Multiple Myeloma

FISH

5 ml Blood or 3 ml Bone marrow Heparin Vac (Green Cap)

5 Days

GF022

MYC Dual Color Break point - 8q24

B-Cell Malignancies

FISH

5 ml Blood or 3 ml Bone marrow Heparin Vac (Green Cap)

5 Days

GF023

TEL/AML1 t(12:21)

Acute Lymphoblastic Leukemia

FISH

5 ml Blood or 3 ml Bone marrow Heparin Vac (Green Cap)

5 Days

GF024

Her2-Nu Amplification

Breast Cancer

FISH

Fresh Tumor tissue or FFPE 5 ml Blood EDTA

5 Days

(Purple Cap)

GF025

Multiple Myeloma 4 Probe Panel

Multiple Myeloma

FISH

5 ml Blood or 3 ml Bone marrow Heparin Vac (Green Cap)

5-6 Days

GF026

BCR/ABL + TEL/AML1 + MLL Panel

Acute Lymphoblastic Leukemia Panel

FISH

5 ml Blood or 3 ml Bone marrow Heparin Vac (Green Cap)

5-6 Days

GF027

BCR/ABL + TEL/AML1 or MLL [2 Probes]

FISH

5 ml Blood or 3 ml Bone marrow Heparin Vac (Green Cap)

5-6 Days

Terms: Sample Shipment: Specimen are to be transported as per the collection and transport procedures applicable with respect to the test ordered. For sample pick-up, kindly intimate us before 1:00 for sample pick-up Conditions of Reporting: 1. The reported results are for the information of the referring doctor only 2. The test results relate to only to the item/items tested 3. The Result(s) of test(s) requested will be reported within 5 working days upon the receipt of the sample Ordering of Test The sample to be tested shall contain the following information: Page 5

Plot # 6-3-347/9 | D No: 204 | Riviera Buildings | Behind Model House, Dwarakapuri Colony | Punjagutta | Hyderabad - 500 082 Tel: 040-2335 0551 | Email: [email protected] | www.genesnlife.com

CANCER GENETIC TESTS 1. 2. 3. 4. 5.

Name & reference no of the Test Method of test Reference no of the sample Type of the sample When is the sample collected

Payment 1. Payment to be made 100 % along with the sample For Genes N Life Healthcare Pvt. Ltd. Date: 5th November 2013

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