Gastrointestinal Cancer

The focus of gastrointestinal pathology is the molecular diagnostics of inherited colorectal cancer and gastrointestinal tumors and, including KRAS, BRAF, NRAS and PIK3CA mutational testing in colorectal cancer for determination of therapeutic response to EGFR inhibitors. An algorithm for Lynch syndrome (hereditary non-polyposis colorectal cancer or HNPCC) testing is available, which includes the rationale for microsatellite instability testing (by PCR and/or IHC), BRAF mutational testing, and detection of MLH1 methylation. Germline analysis of MLH1, MSH2, MSH6, and PMS2 mutations are also offered as a part of the Lynch syndrome. Tests are also available for APC sequencing and MYH mutational tests. ARUP also offers the first blood-based screening test for colorectal cancer, based on the Septin 9 biomarker. ARUP’s test has a reported 90% sensitivity at 90% specificity for detecting colorectal cancer. ARUP is one of only two labs in the US to offer this test. HER2 testing is available for gastric cancers, and c-Kit mutation testing is offered for gastrointestinal stromal tumors. Circulating tumor cell counting (Cell Search) is available for thereapeutic monitoring of colorectal cancer patients.
Test # Test Name Test Keywords Additional Information
0080235 5'Nucleotidase, Serum Gastrointestinal Cancer
2007228 5-Fluorouracil (5-FU) Toxicity and Chemotherapeutic Response, 7 Mutations 5-FU, 5-Fluorouracil Toxicity and Chemotherapeutic Response Panel, Pharmacogenetics (PGx), Colorectal Cancer
0080420 5-Hydroxyindoleacetic Acid (HIAA), Urine Gastrointestinal Cancer, Neuroendocrine Cancer Carcinoid, Tumor Markers
2003433 Pan Cytokeratin (AE1,3) by Immunohistochemistry Glucagonoma, Somatostatinoma, VIPoma, Gastrinoma, Pancreatic Neuroendocrine Tumors (NET), Mesothelioma, Testicular Cancer, Tumor Markers, Synovial Sarcoma, Epithelial Sarcoma, Carcinoma, Adenocarcinoma, Tumor Markers, AE1,3 Stain and return service only
0021020 Alkaline Phosphatase Isoenzymes, Serum or Plasma Bone Cancer, Gastrointestinal Cancer, Tumor Markers, Paget’s disease of bone
0080428 Alpha Fetoprotein, Plasma or Serum (Tumor Marker) Gastrointestinal Cancer, Genitourinary Cancer Hepatocellular Carcinoma, Tumor Markers
0081208 Alpha Fetoprotein, Total and L3 Percent, Serum Gastrointestinal Cancer, Hepatocellular Carcinoma, Tumor Markers
2003418 Alpha-1-Antichymotrypsin (A1ACT) by Immunohistochemistry Pancreatic Acinar Carcinoma, Alpha-1 Antitrypsin Deficiency, Tumor Markers Stain and return service only
2003436 Alpha-1-Fetoprotein (AFP) by Immunohistochemistry Testicular Germ Cell tumor, Ovarian Germ Cell Tumor, Brain Tumors, Tumor Markers Stain and return service only
2003454 Beta-Catenin-1 by Immunohistochemistry Solid-pseudopapillary Neoplasm of Pancreas, Desmoid-type Fibromatosis, Ovarian Cancer, Tumor Markers, Stain and return service only type Stain and return service only
0070029 Beta-hCG, Serum Quantitative (Tumor Marker) Genitourinary Cancer, Gynecologic Cancer, Testicular cancer, Testicular Tumors, Tumor Markers
0055691 BIRC2-MALT1 (API2-MALT1) Translocation, t(11;18) by RT-PCR Marginal Zone B-Cell Lymphoma, Mucosa Associated Lymphoid Tumor (MALT) lymphoma, Tumor Markers
2002498 BRAF codon 600 Mutation Detection by Pyrosequencing Melanoma, Colorectal cancer, Lynch Syndrome, HNPCC, Hereditary Nonpolyposis Colorectal Cancer, Gastrointestinal Adenocarcinoma, Papillary thyroid carcinoma Additional Technical Information
0051750 BRAF Codon 600 Mutation Detection with Reflex to MLH1 Promoter Methylation BRAF RFLX, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, Lynch Syndrome, Tumor Markers
2008710 BRAF V600E by Immunohistochemistry Stain and return service only
2008652 c-MET by Immunohistochemistry Stain and return service only
0070103 C-Peptide, Serum or Plasma Gastrointestinal Cancer, Neuroendocrine Cancer, Tumor Markers
2003484 Caldesmon by Immunohistochemistry Gastrointestinal Stromal Tumors, GIST, endometrial, stromal, smooth muscle tumors, Tumor Markers Stain and return service only
0020746 Cancer Antigen-GI (CA 19-9), Body Fluid Gastrointestinal Cancer, Pancreatic adenocarcinoma, Cholangiocarcinoma, Tumor Markers
0080461 Cancer Antigen-GI (CA 19-9), Serum or Plasma Gastrointestinal Cancer, Pancreatic adenocarcinoma, Cholangiocarcinoma, Tumor Markers
0020742 Carcinoembryonic Antigen, Fluid Gastrointestinal Cancer, Tumor Markers
2003824 Carcinoembryonic Antigen, Monoclonal (CEA M) by Immunohistochemistry Mesothelioma, Ovarian Cancer, Colorectal Cancer, Tumor Markers, Cervical Cancer Stain and return service only
2003827 Carcinoembryonic Antigen, Polyclonal (CEA P) by Immunohistochemistry Hepatocellular Carcinoma, canallicular marker, Pancreatic Cancer, Ovarian Cancer, Lung Cancer, Colorectal Cancer, Tumor Markers Stain and return service only
0080080 Carcinoembryonic Antigen, Serum Breast Cancer, Gastrointestinal Cancer, Genitourinary Cancer, Gynecologic Cancer, Lung Cancer, Tumor Markers
2003806 CD117 (c-Kit) by Immunohistochemistry Gastrointestinal Stromal Tumors (GIST), Lung Cancer, Breast Cancer, Melanoma, Mast Cell Disease, Germ Cell Tumor of Testes and Ovary, Brain Tumors, Myelodysplastic Syndromes, Acute Myeloid Leukemia, (AML), Myeloproliferative Neoplasms (MPN), Tumor Markers Additional Technical Information
Stain and return service only
2003556 CD34, QBEnd/10 by Immunohistochemistry B-ALL, T-ALL, Acute myelogenous leukemia, MDS, Tumor Markers Stain and return service only
2003821 CDX2 by Immunohistochemistry Intestinal-type sinonasal adenocarcinoma, Colorectal Cancer, Tumor Markers, Lung Cancer Stain and return service only
2003830 Chromogranin A by Immunohistochemistry Neuroendocrine Tumors (NET), Carcinoid Tumors, Medullary Thyroid Cancer, Tumor Markers, Paraganglioma, Carotid body tumor, Olfactory neuroblastoma, pituitary adenomas, islet cell tumors, phaeochromocytomas, medullary thyroid carcinomas, Merkel cell tumors, and carcinoids Stain and return service only
0093399 Circulating Tumor Cell Count Colorectal Cancer, Tumor Markers, mestastatic colorectal carcinoma, mestastic breast cancer, mestastic prostate cancer, prognostic Additional Technical Information
2003848 Cytokeratin 20 (CK 20) by Immunohistochemistry Tumor Markers, Bladder Cancer, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Lung Cancer, Colorectal Cancer, Multiple Carcinomas , Merkel Cell, adenomas, gallbladder, bile duct, gastrointestinal adenocarcinoma, ductal cell adenocarcinomas of the pancreas, mucinous ovarian tumors, transitional cell carcinoma, Pancreatic carcinoma, cholangiocarcinoma, Mesothelioma Stain and return service only
2003854 Cytokeratin 7 (CK 7) by Immunohistochemistry Gastrinoma, Mesothelioma, Bladder Cancer, Ovarian Cancer, Lung Cancer, Tumor Markers, Multiple Carcinomas, Breast Cancer Stain and return service only
2003493 Cytokeratin 8,18 Low Molecular Weight (CAM 5.2) by Immunohistochemistry Carcinoid Tumors, Hepatocellular Carcinoma, Renal Cell, Rhabdoid tumors, Neuroendocrine, Pancreatic Cancer, Pheochromocytoma, Melanoma, Tumor Markers, Multiple Carcinomas, Colon Cancer, Gastrointestinal Cancer Stain and return service only
8209709 Cytology, Gastrointestinal Gastrointestinal Cancer Cytology, Gastrointestinal Specimen Collection
0081312 Des-gamma-carboxy Prothrombin, Serum Gastrointestinal Cancer
2003863 Desmin by Immunohistochemistry Smooth Muscle, Reactive Mesothelial cells, leiomyosarcomas, myogenic sarcomas, rhabdomyosarcoma, PNET, neuroblastoma, GIST, gastrointestinal stromal tumor, Tumor Markers Stain and return service only
0095140 DNA Content/Cell Cycle Analysis, Colon Colorectal Cancer
2003869 E-Cadherin by Immunohistochemistry Mesothelioma, Breast Cancer, Tumor Markers Stain and return service only
2003872 Epithelial Membrane Antigen (EMA) by Immunohistochemistry Adenocarcinoma, anaplastic large cell lymphomas, epitheloid sarcomas, Pagets’ disease, plasmacytomas, Pancreatic tumors, Tumor Markers Stain and return service only
2007785 ERBB2 (HER2/neu) (HercepTest) by Immunohistochemistry, Tissue with Reflex to Dual ISH if 2+
0049178 ERBB2 (HercepTest®) by Immunohistochemistry, Tissue with Reflex to FISH if 2+ Gastric, gastrointestinal cancer, tumor marker, pharmacogenetics, Breast Cancer, Tumor Markers, FISH, herceptin, HER2, HER-2, neu, HER2/neu, Pancreatic Cancer, Gastric Cancer, Barrett’s Esophagus Cancer, Gastroesophageal Junction Cancer
0049174 ERBB2 (HercepTest®) with Interpretation by Immunohistochemistry, Tissue Gastric, gastrointestinal cancer, tumor marker, pharmacogenetics, Breast Cancer, Tumor Markers, FISH, herceptin, HER2, HER-2, neu, HER2/neu, Pancreatic Cancer, Gastric Cancer, Barrett’s Esophagus Cancer, Gastroesophageal Junction Cancer
2003878 Factor XIIIa by Immunohistochemistry Hepatocellular Carcinoma Stain and return service only
2004863 Familial Adenomatous Polyposis (APC) Sequencing APC FGS, Colorectal Cancer, colon cancer, CRC, polyps, Familial Adenomatious Polyposis FAP, familial cancer
2004915 Familial Adenomatous Polyposis Panel: APC Sequencing, APC Deletion/Duplication, and MYH 2 Mutations FAP Panel, Familial Adenomatious Polyposis familial cancer, Colorectal Cancer, colon cancer, CRC, polyps, FAP, familial cancer
2001961 Familial Mutation, Targeted Sequencing SEQ FSM

The following genes are available:
ACADVL, ACADM, ACVRL1, APC, ASS1, ATP7A, BMPR1A, BMPR2, BTD, CCM1, CCM2, CCM3, CDKL5, CFTR, COL4A5, CYP1B1, ENG, F8, F9, FBN1, G6PD, GALT, GJB2; HBA1, HBA2, HBB, INSR, LMNA, MECP2,MEFV, MEN1, MLH1, MSH2; MSH6, MUTYH, MYH3, NF1, OTC, PLOD1, PMS2; PRSS1, PTEN, PTPN11, RASA1, RET, SDHB, SDHC, SDHD, SLC22A5, SLC25A13, SMAD4, SPRED1, SPINK1, SOS1, STK11, TACI, TGFBR1, TGFBR2, UBE3A, VHL, VWF

2003896 Gastrin by Immunohistochemistry Gastrinoma, Pancreatic Neuroendocrine Tumors (NET), Carcinoid Tumors, Tumor Markers Stain and return service only
0070075 Gastrin, Serum Gastrinoma, Pancreatic Neuroendocrine Tumors (NET), Carcinoid Tumors, Tumor Markers, Endocrine/Adrenal Cancer, Gastrinoma, Carcinod Tumors, MEN, NET, Neuroendocrine, tumor markers
2010198 Gastrointestinal Hereditary Cancer Panel, Sequencing and Deletion/Duplication, 15 genes GICAPAN, APC, BMPR1A, CDH1, EPCAM, MLH1, MSH2, MSH6, MUTYH, PTEN, SDHB, SDHC, SDHD, SMAD4, STK11, TP53, colon, colorectal, cancer, gastrointestinal, stomach, GI cancer, polyp, FAP, polyposis, diffuse gastric, Lynch, HNPCC, MAP, Juvenile Polyposis, Peutz-Jeghers, Li-Fraumeni APC, BMPR1A, CDH1, EPCAM, MLH1, MSH2, MSH6, MUTYH, PTEN, SDHB, SDHC, SDHD, SMAD4, STK11, TP53, diffuse gastric cancer, familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP)
2002674 Gastrointestinal Stromal Tumor Mutation Gastrointestinal Stromal Tumors (GIST) Additional Technical Information
0099165 Glucagon, Plasma Gastrointestinal Cancer, Neuroendocrine Cancer, Neuroendocrine Tumor, Neuroendocrine Neoplasm, Carcinoid Tumor
2003941 Helicobacter pylori by Immunohistochemistry Gastric adenocarcinoma, gastric B-cell lymphoma persistent dyspepsia;duodenal ulcer, gastric MALT, early gastric cancer, gastritis Stain and return service only
0081326 Hepatocellular Carcinoma Tumor Marker Panel Gastrointestinal Cancer, Hepatocellular Carcinoma
2003923 Hepatocyte Specific Antigen (HSA) by Immunohistochemistry Hepatocellular Carcinoma Stain and return service only
0051650 HNPCC/Lynch Syndrome (MLH1) Sequencing and Deletion/Duplication MLH1 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch
0051654 HNPCC/Lynch Syndrome (MSH2) Sequencing and Deletion/Duplication MSH2 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch Additional Technical Information
0051656 HNPCC/Lynch Syndrome (MSH6) Sequencing and Deletion/Duplication MSH6 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch Additional Technical Information
0051737 HNPCC/Lynch Syndrome (PMS2) Sequencing and Deletion/Duplication PMS2 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch Additional Technical Information
2001728 HNPCC/Lynch Syndrome Deletion/Duplication HNPCC DD, Hereditary Nonpolyposis Colorectal Cancer, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch Syndrome Additional Technical Information
2003920 Human Chorionic Gonadotropin (Beta-hCG) by Immunohistochemistry Trophoblastic, germ cell, lung, melanoma, gastrointestinal, ovarian, testicular cancer Stain and return service only
0070063 Insulin, Fasting, Serum or Plasma Gastrointestinal Cancer, Neuroendocrine Cancer
2004984 Juvenile Polyposis (BMPR1A) Deletion/Duplication BMPR1A DD, JPS, SMAD4, Juvenile Polyposis
2004988 Juvenile Polyposis (BMPR1A) Sequencing BMPR1A FGS, JPS, SMAD4, Juvenile Polyposis
2001976 Juvenile Polyposis (SMAD4) Deletion/Duplication SMAD4 DD, Hereditary Hemorrhagic Telangiectasia (HHT), JP/HHT, BMPR1A, JPS, Juvenile Polyposis
0051510 Juvenile Polyposis (SMAD4) Sequencing SMAD4 SEQ, Hereditary Hemorrhagic Telangiectasia (HHT), JP/HHT, BMPR1A, JPS, Myhre, Juvenile Polyposis
2001971 Juvenile Polyposis (SMAD4) Sequencing and Deletion/Duplication SMAD4 FGA, Hereditary Hemorrhagic Telangiectasia (HHT), JP/HHT, BMPR1A, JPS, Juvenile Polyposis
0040137 KIT (D816V) Mutation by PCR Mast Cell Disease, C-KIT, CKIT Additional Technical Information
2002695 KIT Mutations, Melanoma Melanoma, Tumor Markers, C-KIT, CKIT Additional Technical Information
0040248 KRAS Mutation Detection Pharmacogenetics (PGx), Lung Cancer, Colorectal Cancer, Tumor Markers, CRC, colon, rectal Additional Technical Information
2001932 KRAS Mutation Detection with BRAF reflex Pharmacogenetics (PGx), Lung Cancer, Colorectal Cancer, Tumor Markers, CRC, colon, rectal Additional Technical Information
0051740 Microsatellite Instability (MSI), HNPCC/Lynch Syndrome, by PCR MSI PCR, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, Lynch Syndrome, Tumor Markers, MSI, MLH1, MSH2, MSH6, PMS2, mismatch repair Additional Technical Information
0049302 Mismatch Repair by Immunohistochemistry MSI, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, Tumor Markers, MLH1, MSH2, MSH6, PMS2, mismatch repair, IHC, Lynch Additional Technical Information
2002327 Mismatch Repair by Immunohistochemistry with Reflex to BRAF Codon 600 Mutation and MLH1 Promoter Methylation Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, Tumor Markers, MSI, MLH1, MSH2, MSH6, PMS2, mismatch repair, IHC, Lynch
2005270 Mismatch Repair by Immunohistochemistry with Reflex to MLH1 Promoter Methylation MSI MLH1, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, Tumor Markers, MLH1, MSH2, MSH6, PMS2, mismatch repair, IHC, Lynch Additional Technical Information
2002499 MLH1 Promoter Methylation, Paraffin MLH1PCR, Colorectal Cancer, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Tumor Markers Additional Technical Information
2004002 Muc-1 by Immunohistochemistry Glandular differentiation marker, Pancreatic, thyroid cancer, biliary, Salivary gland Stain and return service only
2004008 Muc-4 by Immunohistochemistry Colorectal Cancer, Tumor Markers, Pancreatic, thyroid, salivary gland, biliary Stain and return service only
2003999 Muc-5AC by Immunohistochemistry Glandular differentiation marker, Tumor Markers Pancreatic, cholangiocarcinoma, gastric Stain and return service only
2004911 MUTYH-Associated Polyposis (MUTYH) 2 Mutations MYH SEQ, Hereditary Colorectal Cancer, MAP, MUTH Associated Polyposis
0098198 Neuron Specific Enolase, Serum Brain Cancer, Gastrointestinal Cancer, Head and Neck Cancer, Lung Cancer, Tumor Markers, Monitoring
2003123 NRAS Mutation Detection by Pyrosequencing Colorectal, melanoma, Hereditary Nonpolyposis Colorectal Cancer , HNPCC, Tumor Markers, CRC, colon, rectal Additional Technical Information
2004064 p16 by Immunohistochemistry Head and Neck Cancer, Cervical Cancer, Bladder Cancer, Ovarian Cancer, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, Tumor Markers, Pancreatic Cancer, Melanoma, prognostic Stain and return service only
2004067 p21 (Waf1/Cip 1) by Immunohistochemistry Pancreatic Cancer, Melanoma, Bladder Cancer, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, Tumor Markers Stain and return service only
0099436 Pancreatic Polypeptide, Serum Gastrointestinal Cancer, Tumor Markers
2002016 Pancreatitis, Hereditary (PRSS1) Sequencing PRSS1 FGS, Idiopathic pancreatitis, acute pancreatitis, R122H, N29I
2002461 Pancreatobiliary FISH PF, Pancreatic Cancer, Tumor Markers
2008377 Peutz-Jeghers Syndrome (STK11) Deletion/Duplication STK11, STK11 DD, hamartomatous polyps, mucocutaneous hypergigmentation
2008394 Peutz-Jeghers Syndrome (STK11) Sequencing STK11, STK11 FGS, hamartomatous polyps, mucocutaneous hypergigmentation
2008398 Peutz-Jeghers Syndrome (STK11) Sequencing and Deletion/Duplication STK11, STK11 FGA, hamartomatous polyps, mucocutaneous hypergigmentation
2004510 PIK3CA Mutation Detection Tumor Markers, Breast Cancer, Colorectal Cancer, Lung Cancer, Gastrointestinal Cancer, Pancreatic Cancer Additional Technical Information
2004091 Protein Gene Product (PGP) 9.5 by Immunohistochemistry Glucagonoma, Somatostatinoma, VIPoma, Ewing Sarcoma, Gastrinoma, Pancreatic Neuroendocrine Tumors (NET), Carcinoid Tumors, Pancreatic Cancer, Pheochromocytoma, Tumor Markers, neuronal neoplasis Stain and return service only
0059444 Purkinje Cell Cytoplasmic Antibody by IFA with Reflex to Titer and Immunoblot, Serum Gastrointestinal Cancer, Gynecologic Cancer, Hematologic Cancer, Paraneoplastic Syndrome
2003243 Septin 9 (SEPT9), Methylated DNA Detection by Real-Time PCR Colorectal Cancer, Gastrointestinal Cancer Additional Technical Information
0051332 UDP Glucuronosyltransferase 1A1 (UGT1A1) Genotyping UGT1A1, Irinotecan, Pharmacogenetics (PGx), Colorectal Cancer
0099435 Vasoactive Intestinal Peptide, Plasma Gastrointestinal Cancer, Neuroendocrine Cancer
2004178 Villin by Immunohistochemistry Tumor Markers, Gastrointestinal Cancer Stain and return service only