The Physician's Guide to Laboratory Test Selection and InterpretationTumor Markers
Clinical Background
Tumor and genetic markers may be useful in the diagnosis, treatment, monitoring and prognostication of specific tumors. Available markers include those in the following table (most are available at ARUP® Laboratories). The information that follows is general in nature; for specific information salient to use and interpretation of various markers and tests, consultation with a pathologist is highly advised.
| | Methodology | |||
Molecular | FISH | IHC | Other | ||
1p/19q, d(1;19) | Oligodendroglioma | T | |||
5-HIAA | Carcinoid | U | |||
68kDa (neurofilament) | Brain, lung | T | |||
AFP | Hepatocellular (HCC), germ cell, ovarian, GI tract | T | B | ||
AFP-L3% | HCC | B | |||
ALK rearrangement | Non-Hodgkin lymphoma (NHL), anaplastic large-cell lymphomas (ALCL) | T | T | ||
API2-MLT1 t(11;18) | NHL, mucosa-associated lymphoid tissue (MALT) | T | |||
| APC | Colorectal | T | |||
BRAF V600E | Lynch syndrome, melanoma | T | |||
β-hCG | Trophoblastic, germ cell | B | |||
BTA (Bladder tumor antigen) | Bladder | U | |||
BCR/ABL1 t(9;22) | Chronic myelogenous leukemia (CML), acute lymphocytic leukemia (ALL), L1/L2 subtypes | B | B,T | T | |
BCL6 | NHL, diffuse large B-cell lymphoma (DLBCL) | T | T | ||
bcl-1/JH t(11;14) | NHL (mantle cell) | B | T | T | T |
bcl-2/JH t(14;18) | NHL (follicular) | B | T | T | T |
BRCA1, BRCA2 | Breast | B | T | ||
BRST II (GCDFP-15) | Breast | T | |||
C-myc rearrangements | NHL, Burkitt lymphoma | T | T | ||
CA-125 (OC-125) | Ovarian | T | B | ||
CA 15-3 | Breast, pancreatic, lung, ovarian | B | |||
CA 19-9 | Pancreatic, gastric, biliary tract, colon, breast | F | |||
CA 27.29 | Breast | B | |||
CA 72-4 | Gastric | B | |||
Calcitonin | Medullary thyroid carcinoma (MTC) | T | B | ||
Calcium | Parathyroid | B | |||
Catecholamines | Pheochromocytoma, neuroblastoma | B,U | |||
CD14 (MY4) | Leukemia, lymphoma | T | B,T | ||
CD15 (Leu M1) | Hodgkin lymphoma (HL) | T | B,T | ||
CD20 | HL, B-cell lymphoma/leukemia | T | B,T | ||
CD33 | Acute myeloblastic leukemia (AML) | T | B,T | ||
CD45 (LCA) | Leukemia | T | |||
CD56 | Merkel cell carcinoma (MCC), leukemia/lymphoma | T | B,T | ||
CD57 (Leu 7 / HNK-1) | Leukemia/lymphoma | T | |||
CD64 | Leukemia/lymphoma | T | B,T | ||
CD117 (c-kit1) | Gastrointestinal stromal tumor (GIST)1, leukemia/lymphoma, melanoma | T1 | T1 | B | |
CDX2 | Colorectal, ovarian, pancreatic, intestinal adenocarcinomas | T | |||
CEA (carcinoembryonic | Colorectal, lung (including non-small cell lung [NSCLC]), breast, ovarian, uterus; MTC, pancreatic1 | T | B,F1 | ||
CEACAM1 (17) | Pancreatic | B | |||
Chromogranin A | Neuroendocrine, neuroblastoma, small cell lung (SCLC) | T | B | ||
CHOP rearrangement | Liposarcoma | T | |||
CK-7 | Colorectal, NSCLC | T | |||
Cytokeratin-19 fragment | NSCLC, head and neck | B | |||
CK-20 | Bladder, colorectal, lung | T | |||
DCP (des-gamma-carboxy prothrombin) | HCC | B | |||
E2A-PBX1 t(1;19) (TCF3) | B-cell, ALL | B,T | T | ||
EBV LMP | Burkitt lymphoma | T | |||
EGFR | lung, head and neck, colorectal, brain | T | T | ||
Estrogen, progesterone receptor | Breast | T | |||
ETV6/RUNX1 (TEL-AML1) | ALL | T | |||
EWSR1; EWS-E1AF; EWS-ETV4 | Ewing sarcoma | T | T | ||
FKHR (FOXO1A) | Sarcoma | T | |||
FLT3 | AML | B,T | |||
Gastrin | Gastrinoma | T | B | ||
Glucagon | Glucagonoma | T | B | ||
Hercept/HER2 | Breast | T | T | T | B |
KSHV/HHV8 | Kaposi sarcoma | T | T | ||
HE4 | Ovarian | B | |||
HPV (hybrid capture on cervical brush1; ISH on tissue2) | Endocervical, head and neck | T1 | T2 | ||
HRPT2 | Parathyroid, primary hyperparathyroidism | T | B | ||
HVA | Neuroblastoma | U | |||
Hyperdiploidy (+4, +10, +17) | ALL | T | |||
IGH/BCL2 | NHL (follicular cell) | B,T | |||
IGH-CCND1 | NHL (mantle cell), multiple myeloma | B | B,T | ||
IGH rearrangement | ALL | T | |||
Insulin/proinsulin | Insulinoma | T | B | ||
inv(16) (CBFB-MYH11) | AML | B,T | T | ||
IGH/myc CEP8 t(8;14) | Burkitt lymphoma | T | |||
IgVH mutation | CLL | B,T | |||
JAK2 | Myeloproliferative neoplasms | B,T | |||
KIT (D816V) | GIST, testicular, melanoma1 | B,T,F1 | B | ||
Ki-67 (MIB-1) | Prostate, breast | T | |||
KRAS mutation detection | Colorectal, breast, pancreas | T | |||
LD | Germ cell, skin | B | |||
LSA (lipid-associated sialic acid) | Breast, gastrointestinal, lung, leukemia, lymphoma, melanoma, ovarian | B | |||
| MDM2 | Sarcoma, glioma | T | |||
Melan A | melanoma | T | |||
MEN1, MEN2 | Neuroendocrine, parathyroid | B | |||
Mesomark® | Mesothelioma | B | |||
Metanephrines | Pheochromocytoma | B,U | |||
Microsatellite instability (MSI) | Colorectal | B,T | T | ||
MLH1, MSH2, MSH6, PMS2 | Colorectal (HNPCC) | B,T | |||
MLL rearrangement | ALL | B,T | B | ||
MLL-AF4 t(4;11) | Infant leukemia | B,T | |||
MPO (myeloperoxidase) | Breast | T | |||
MUC1, MUC2, MUC4 | Pancreatic, thyroid, biliary | T | B | ||
MUC-5AC glycoprotein | Pancreatic, cholangiocarcinoma, gastric | T | |||
Myo D-1, myogenin, myoglobulin, myosin | Rhabdomyosarcoma | T | |||
NSE | Neuroblastoma, SCLC, neuroendocrine | T | B | ||
NMP22® | Bladder | U | |||
N-myc | Neuroblastoma | T | |||
NPM-ALK / NPM1 (p80) | NHL (anaplastic large cell) | T | |||
| NRAS | Colorectal, Lynch syndrome, melanoma | T | |||
p53 | Breast (deletions occur across most cancers) | T | T | ||
Pancreatic polypeptide | Pancreatic neuroendocrine tumor (PNET) | B | |||
Parathyroid hormone | Parathyroid | T | B | ||
PAX-FKHR | Rhabdomyosarcoma | T | |||
PAX-5 | B-cell lymphoma, NHL, HL | T | |||
PCA3 | Prostate | B,U | |||
PDGFRB, PDGFRA rearrangements, FGFR1, CBFB | Myeloproliferative with associated eosinophilia, GIST, myeloproliferative neoplasms (MPN) | T | T | ||
PLAP | Seminoma, germinoma, ovarian | T | |||
PML/RARα t(15;17) | AML (promyelocytic) | T | |||
Proinsulin/insulin | Insulinoma | T | B | ||
PSA | Prostate | T | B | ||
PTH | Parathyroid | B | |||
RET (MEN2a1, MEN2b2) | Gastroenteropancreatic (GEP)1, parathyroid1, MTC2 | B | |||
RUNX1/RUNX1T1 (AML-ETO) | AML, M2 subtype | B,T | T | ||
SYT-SSX | Synovial sarcoma | T | T | ||
SCC Ag (squamous cell carcinoma antigen) | Head and neck, NSCLC | B | |||
SKp-2 | Breast | T | |||
SLC22A2 (Oct-2) | Breast | T | |||
SMAD4 | Colorectal | B | |||
Serotonin | Carcinoid | B | |||
TA90-IC | Melanoma | T | B | ||
Thyroglobulin | Thyroid, parathyroid (well-differentiated) | T | B,F | ||
S-100, S-100B | Melanoma | T | B | ||
UGT1A1 | Colorectal | B | |||
uPA/PAI-1 | Breast | T | |||
UroVysion™ | Bladder1, pancreatic2 | U1 | |||
Villin | Adenocarcinoma | T | |||
VIP | Vasoactive intestinal peptide tumor (VIPoma) | B | |||
VMA | Neuroblastoma | U | |||
WT1 | Ewing sarcoma, myelodisplastic syndrome (MDS), leukemia | T | |||
ZAP-70 | CLL | B | |||
B = blood (serum, plasma or whole), T = tissue (includes bone marrow), U = urine, F = fluid | |||||
Diagnosis
Tumor Markers and Genetic Markers – Use for Specific Malignancy
The following information is from multiple guideline sources as recommendations for use of tumor markers and genetic markers.
Gastrointestinal Tumors
Tumor Type | Marker | Recommended Use | Recommending Organization* |
Hepatic | AFP | Monitoring | ACS, NCCN, ESMO, NACB |
Early detection in high-risk patients | ACS, NCCN, ESMO, NACB | ||
AFP-L3% | Monitoring, early detection in high-risk patients, prognosis | NACB | |
DCP | Monitoring, early detection in high-risk patients, prognosis | NACB | |
Gastric | No markers with good evidence | None available | NACB |
Pancreatic (ductal adenocarcinoma) | CA19-9 | Monitoring | NCCN, ESMO, NACB |
Diagnosis | NCCN, NACB | ||
Colorectal | CEA | Monitoring | ASCO, NACB, ESMO, NCCN |
Monitoring advanced disease | ASCO, NACB | ||
Prognosis | ASCO, ACS, ESMO, NCCN, NACB (if used with other prognostic features) | ||
KRAS mutation | Predict response to EGFR inhibitors, prognosis | NCCN, ASCO | |
BRAF V600E | Lynch syndrome risk assessment | NACB | |
MSI/HPNCC-PCR and/or immunohistochemical stain | Colorectal and Lynch syndrome risk assessment | NCCN, NACB | |
MLH1, MSH2, MSH6, PMS2 | Lynch syndrome risk assessment | ESMO, NCCN, NACB | |
ACS = American Cancer Society , NCCN = National Comprehensive Cancer Network, ESMO = European Society of Medical Oncology, ASCO = American Society of Clinical Oncology, NACB = National Academy of Clinical Biochemistry | |||
Neuroendocrine
Tumor Type | Marker | Recommended Use | Recommending Organization |
All neuroendocrine tumors | Chromogranin A | Diagnosis | NCCN, ESMO, NACB |
Recurrence | NACB | ||
Monitoring | NACB | ||
Carcinoid | 5-HIAA (urine) | Diagnosis | NCCN, ESMO, NACB |
Monitoring for specific tumor | NCCN, ESMO, NACB | ||
Serotonin (serum and whole blood) | Diagnosis | NACB | |
Gastrinoma | Gastrin (serum) | Diagnosis | NCCN, ESMO, NACB |
Monitoring for specific tumor | NCCN, ESMO, NACB | ||
Gastrin (immunohistochemical stain) | Diagnosis | NACB | |
Glucagonoma | Glucagon | Diagnosis | NCCN, ESMO, NACB |
Monitoring for specific tumor | NCCN, ESMO, NACB | ||
Glucagon (immunohistochemical stain) | Diagnosis | NACB | |
Pheochromocytoma | Metanephrines (plasma, urine) | Diagnosis | NCCN, ESMO, NACB |
Monitoring for specific tumor | NCCN, ESMO, NACB | ||
Catecholamines (urine) | Diagnosis | NCCN, ESMO, NACB | |
Monitoring | NCCN, ESMO, NACB | ||
Insulinoma | Proinsulin | Diagnosis | NCCN, ESMO, NACB |
Monitoring for specific tumor | NCCN, ESMO, NACB | ||
VIPoma | VIP | Diagnosis | NCCN, ESMO, NACB |
Monitoring for specific tumor | NCCN, ESMO, NACB | ||
Pancreatic neuroendocrine carcinoma | Pancreatic polypeptide | Diagnosis | NCCN, ESMO, NACB |
Monitoring for specific tumor | NCCN, ESMO, NACB | ||
NCCN = National Comprehensive Cancer Network, ESMO = European Society of Medical Oncology, NACB = National Academy of Clinical Biochemistry | |||
Lung Tumors
Tumor Type | Marker | Recommended Use | Recommending Organization* |
Small cell | NSE | Monitoring | ACS, NACB |
Prognosis | NACB | ||
Chromogranin A | Prognosis | NACB | |
Non-small cell | Cytokeratin-19 fragment, CEA, SCC Ag | Monitoring, prognosis, detecting relapse | NACB |
Mesothelioma | Soluble mesothelin related peptides (Mesomark®) | Monitoring | IMIG, NACB |
ACS = American Cancer Society, IMIG = International Mesothelioma Interest Group, NACB = National Academy of Clinical Biochemistry | |||
Female Gynecologic/Genitourinary
Tumor Type | Marker | Recommended Use | Recommending Organization |
Breast | Estrogen, progesterone receptor (tissue) | Predicting hormone response | ASCO, ESMO, NCCN, NACB |
Prognosis | ASCO (do not use alone), NCCN, NACB (do not use alone), ACS | ||
HER, HER2, HER-2/neu (tissue) | Predicting response to Herceptin | ASCO, ESMO, ACS, NCCN, NACB | |
Prognosis | NCCN, NACB | ||
Prediction of response to anthracyclines | ASCO, NCCN, NACB | ||
UPA/PAI-1 | Prognosis | ASCO, ACS, NACB | |
CA 15-3, CA 27-29, CEA | Monitoring in advanced disease | ASCO, ESMO, NACB, ACS | |
CEA | Monitoring in advanced disease | ASCO, NACB | |
BRCA1, BRCA2 | Identifying high-risk patients | ASCO, NCCN, NACB | |
HER-2/neu (serum) | Monitoring, prognosis | NACB | |
p53 | Prognosis | NACB | |
Cervical | HPV | Risk assessment | NCCN, NACB |
SCC Ag | Monitoring | NACB | |
Ovarian | CA-125 | Monitoring | ESMO, NACB, NCCN |
Differential diagnosis is suspicious pelvic mass | NACB, NCCN | ||
Detection of recurrence | ESMO, NACB, NCCN | ||
Prognosis | ESMO, NACB | ||
Gestational Trophoblastic | β-hCG | Monitoring | ACS, NACB |
Diagnosis | ACS, NACB | ||
Bladder | BTA, NMP22, UroVysion™ | Monitoring, early detection | NACB, NCCN |
ASCO = American Society of Clinical Oncology, ESMO = European Society of Medical Oncology, NCCN = National Comprehensive Cancer Network, NACB = National Academy of Clinical Biochemistry , ACS = American Cancer Society | |||
Male Genitourinary
Tumor Type | Marker | Recommended Use | Recommending Organization* |
Prostate | PSA | Screening | ACS, AUA, EAU, ESMO, NACB, NCCN |
Staging and prognosis | AUA, EAU, ESMO, NCCN, NACB | ||
Monitoring | AUA, EAU, ESMO, NCCN, NACB | ||
Follow-up and negative biopsy | NCCN, NACB | ||
PCA3 | Screening | NACB | |
Bladder | BTA, NMP22, UroVysion™ | Monitoring, diagnosis | ACS, NACB |
Germ cell (testicular) | β-hCG and AFP | Diagnosis and differential diagnosis of nonseminomatous germ cell cancer of the testes | EAU, ESMO, NACB, NCCN |
Staging and prognosis | EAU, ESMO, NACB, NCCN | ||
Monitoring | EAU, ESMO, NACB, NCCN | ||
Detecting recurrence | EAU, ESMO, NACB, NCCN | ||
LD | Diagnosis | EAU, ESMO, NACB, NCCN | |
Staging and prognosis | EAU, ESMO, NACB, NCCN | ||
Monitoring | EAU, ESMO, NACB, NCCN | ||
Detecting recurrence | EAU, ESMO, NACB, NCCN | ||
ACS = American Cancer Society, AUA = American Urological Association, EAU = European Association of Urologists, ESMO = European Society of Medical Oncology, NACB = National Academy of Clinical Biochemistry, NCCN = National Comprehensive Cancer Network | |||
Brain
Tumor Type | Marker | Recommended Use | Recommending Organization |
Oligodendroglioma | 1p/19q, d(1;19) Deletion by FISH | Diagnosis | NACB |
NACB = National Academy of Clinical Biochemistry | |||
Soft Tissue/Sarcomas
Tumor Type | Marker | Recommended Use | Recommending Organization |
Ewing | EWSR1 – Ewing Sarcoma by RT-PCR | Diagnosis | ESMO, NACB |
EWSR1 rearrangement by FISH | Diagnosis | NACB | |
Synovial | SYT, SYT-SSX | Diagnosis | NACB |
SYT rearrangement by FISH | Diagnosis | NACB | |
Rhabdomyosarcoma | PAX-FKHR | Diagnosis | NACB |
Kaposi Sarcoma | HHV8 | Diagnosis | NACB |
ESMO = European Society of Medical Oncology, NACB = National Academy of Clinical Biochemistry | |||
Lymphoma
Tumor Type | Marker | Recommended Use | Recommending Organization |
NHL | IGH/BCL2 | Diagnosis of follicular lymphomas | NCCN, NACB |
IGH/CCND1 | Diagnosis of mantle cell subtype | NCCN, NACB | |
API2-MLT1 t(11;18) | Diagnosis of a subset of MALT lymphomas | NCCN, ESMO, NACB | |
ALK rearrangements | Diagnosis of anaplastic large-cell lymphomas | NCCN, NACB | |
C-MYC rearrangements | Diagnosis of Burkitt lymphoma | NCCN, NACB | |
BCL6 | Diagnosis of diffuse large B-cell lymphoma | NCCN, NACB | |
NCCN = National Comprehensive Cancer Network, ESMO = European Society of Medical Oncology, NACB = National Academy of Clinical Biochemistry | |||
Leukemia
Tumor Type | Marker | Recommended Use | Recommending Organization |
ALL | BCR/ABL1 | Diagnosis, prognosis, monitoring | NACB |
ETV6/RUNX1(TEL/AML1) | Diagnosis, prognosis, monitoring | NACB | |
(TCF3) E2A-PBX1 t(1;19) | Diagnosis, prognosis, monitoring | NACB | |
Hyperdiploidy (+4, +10, +17) | Diagnosis, prognosis, monitoring | NACB | |
MLL rearrangement | Diagnosis, prognosis, monitoring | NACB | |
IGH rearrangement | Diagnosis, prognosis, monitoring | NACB | |
AML | RUNX1/RUNX1T1 | Diagnosis of prognostically important genetic subtype | ESMO, NACB |
FLT3-ITD | Prognosis | ESMO, NACB | |
inv(16) | Diagnosis of prognostically important genetic subtype | ESMO, NACB | |
PML/RARα | Diagnosis of AML | ESMO, NACB | |
MLL | Prognosis | ESMO, NACB | |
CLL | ZAP-70 | Diagnosis | NCCN, NACB |
Prognosis | ESMO, NACB | ||
IgVH mutation | Prognosis | NCCN, ESMO, NACB | |
CML | ABL1/BCR | Diagnosis | ESMO, NACB |
Prognosis | NACB | ||
Monitoring | ESMO, NACB | ||
ESMO = European Society of Medical Oncology, NCCN = National Comprehensive Cancer Network, NACB = National Academy of Clinical Biochemistry | |||
Myeloproliferative Diseases
Tumor Type | Marker | Recommended Use | Recommending Organization |
Myeloproliferative | JAK2 | Diagnosis | NACB |
Myeloproliferative with associated eosinophilia | PDGFRA, PDGFRB and FGFR1 rearrangements by FISH | Diagnosis | NACB, WHO |
NACB = National Academy of Clinical Biochemistry WHO= World Health Organization | |||
Childhood Tumors
Tumor Type | Marker | Recommended Use | Recommending Organization |
Neuroblastoma | NSE | Prognosis | NACB |
N-myc | Prognosis | NACB | |
HVA, VMA, catecholamines | Diagnosis, monitoring | NACB | |
Childhood leukemia | MLL-AF4 rearrangement | Diagnosis | NACB |
COG ALL FISH panel | Diagnosis | NACB | |
BCR/ABL1 | Diagnosis, prognosis, monitoring | NACB | |
ETV6/RUNX1(TEL/AML1) | Diagnosis, prognosis, monitoring | NACB, ASCO | |
Hyperdiploidy (+4, +10, +17) | Diagnosis, prognosis, monitoring | NACB | |
MLL rearrangement | Diagnosis, prognosis, monitoring | NACB | |
ASCO = American Society of Clinical Oncology, NACB = National Academy of Clinical Biochemistry | |||
Skin
Tumor Type | Marker | Recommended Use | Recommending Organization |
Melanoma | TA90-IC | Monitoring, prognosis | ACS, NACB |
S-100, gp100 (tissue) | Diagnosis, usually used in combination | ACS, NACB | |
S-100B (serum) | Monitoring, prognosis | ACS, NACB | |
C-KIT | Response to therapy | ACS | |
ACS = American Cancer Society, NACB = National Academy of Clinical Biochemistry | |||
Head and Neck
Tumor Type | Marker | Recommended Use | Recommending Organization |
Squamous cell cancers | SCC Ag | Monitoring | NACB |
HPV | Risk assessment | NACB | |
Burkitt lymphoma | EBV | Diagnosis | NACB |
NACB = National Academy of Clinical Biochemistry | |||
Thyroid/Parathyroid
Tumor Type | Marker | Recommended Use | Recommending Organization |
Well-differentiated | BRAF V600E (tissue) | Diagnosis | NACB |
BRAF V600E (serum) | Prognosis | NACB | |
Thyroglobulin (serum) | Diagnosis, monitoring | NCCN, AACE, NACB | |
Thyroglobulin FNA (immunohistochemical stain) | Diagnosis | NACB | |
Medullary thyroid carcinoma | Calcitonin | Monitoring, diagnosis | NCCN, AACE, NACB |
CEA | Diagnosis, monitoring | NCCN, NACB | |
Parathyroid | PTH, calcium | Diagnosis, monitoring | NCCN, NACB |
Hereditary forms | HRPT2 | Genetic risk assessment for parathyroid carcinoma or primary hyperparathyroidism | NACB |
MEN1 | Genetic risk assessment for MEN1 | AACE, NACB | |
RET | Genetic risk assessment for MEN2 | AACE, NACB | |
NCCN = National Comprehensive Cancer Network, AACE = American Association of Clinical Endocrinologists, NACB = National Academy of Clinical Biochemistry | |||
Indications for Laboratory Testing
- Tests generally appear in the order most useful for common clinical situations
- Click on number for test-specific information in the ARUP Laboratory Test Directory
Gastrointestinal Tumors | Test Name and Number | Comments | ||
|---|---|---|---|
| Alpha Fetoprotein, Serum (Tumor Marker) 0080428 Method: Electrochemiluminescent Immunoassay | HCC tumor marker | ||
| Alpha Fetoprotein, Total & L3 Percent 0081208 Method: Liquid-Phase Binding Immunoassay | Tumor marker for monitoring, prognosis and early detection in high-risk patients | ||
| Des-gamma-carboxy Prothrombin 0081312 Method: Liquid-Phase Binding Immunoassay | Tumor marker for HCC monitoring, prognosis and early detection in high-risk patients | ||
| Cancer Antigen-GI (CA 19-9), Body Fluid 0020746 Method: Electrochemiluminescent Immunoassay | Pancreatic cancer tumor marker | ||
| Cancer Antigen-GI (CA 19-9) 0080461 Method: Electrochemiluminescent Immunoassay | Tumor marker for pancreatic ductal adenocarcinoma | ||
| Pancreatobiliary FISH 2002461 Method: Fluorescence in situ Hybridization/Automated Image Analysis or Manual Screening | Pancreatic cancer tumor marker | ||
| Carcinoembryonic Antigen 0080080 Method: Eletrochemiluminescent Immunoassay | Colorectal cancer tumor marker | ||
| Gastrointestinal Stromal Tumor Mutation 2002674 Method: Polymerase Chain Reaction/High Resolution Melt Analysis | Determine presence of KIT and PDGFRA mutations | ||
| BRAF V600E Mutation with Reflex to MLH1 Promoter Methylation, Paraffin 0051750 Method: Polymerase Chain Reaction/Fluorescence Resonance Energy Transfer Analysis | Lynch syndrome tumor marker | ||
| BRAF V600E Mutation Detection by PCR 2002498 Method: Polymerase Chain Reaction/Fluorescence Monitoring | Lynch syndrome tumor marker Predict response to EGFR-directed therapy | ||
| Microsatellite Instability/HNPCC by Immunohistochemical Stain 0049302 Method: Immunohistochemistry | Colorectal cancer and Lynch syndrome tumor marker | ||
| HNPCC/Lynch Syndrome, Microsatellite Instability by PCR 0051740 Method: Polymerase Chain Reaction/Fragment Analysis | Lynch syndrome tumor marker | ||
| HNPCC/Lynch Syndrome Deletion/Duplication 2001728 Method: Polymerase Chain Reaction/Multiplex Ligation-dependent Probe Amplification | Germline test for Lynch syndrome | ||
| KRAS Mutation Detection 0040248 Method: Polymerase Chain Reaction/Pyrosequencing | Use for therapy with EGFR inhibitors Assay detects mutations in codons 12, 13, and 61 | ||
| KRAS Mutation Detection with BRAF reflex 2001932 Method: Polymerase Chain Reaction/Pyrosequencing/Fluorescence Resonance Energy Transfer | Use for therapy with EGFR inhibitors Assay detects mutations in codons 12, 13, and 61 | ||
| NRAS Mutation Detection by Pyrosequencing 2003123 Method: Polymerase Chain Reaction/Pyrosequencing | Use in metastatic tumors to predict response to EGFR-directed therapy | ||
Neuroendocrine | Test Name and Number | Comments | ||
|---|---|---|---|
| Chromogranin A 0080469 Method: Enzyme Immunoassay | Neuroendocrine cancer tumor marker | ||
| Immunohistochemistry Stain Offering arup005 Method: Immunohistochemistry | For fixed tissue samples, consultative services as well as immunohistochemical staining for calcitonin, chromogranin A, THS, thyroglobulin, TTF-1 and PTH are available | ||
| 5-Hydroxyindoleacetic Acid (HIAA), Urine 0080420 Method: High Performance Liquid Chromatography | Carcinoid tumor marker | ||
| Serotonin, Serum 0080397 Method: High Performance Liquid Chromatography | Neuroendocrine cancer tumor marker | ||
| Serotonin, Whole Blood 0080395 Method: High Performance Liquid Chromatography | Neuroendocrine cancer tumor marker | ||
| Gastrin 0070075 Method: Chemiluminescent Immunoassay | Neuroendocrine cancer tumor marker | ||
| Glucagon 0099165 Method: Radioimmunoassay | Neuroendocrine cancer tumor marker | ||
| Catecholamines Fractionated by LC-MS/MS, Urine Free 0080407 Method: Tandem Mass Spectrometry | Neuroblastoma tumor marker | ||
| Proinsulin 0070112 Method: Two-Site Enzyme Immunoassay | Neuroendocrine cancer tumor marker | ||
| Homovanillic Acid (HVA), Urine 0080422 Method: High Performance Liquid Chromatography | Neuroblastoma tumor marker | ||
| Vanillylmandelic Acid (VMA) & Homovanillic Acid (HVA), Urine 0080470 Method: High Performance Liquid Chromatography | Neuroblastoma tumor marker | ||
| Metanephrines, Plasma (Free) 0050184 Method: High Performance Liquid Chromatography | Preferred marker for the diagnosis of pheochromocytoma | ||
| Metanephrines, Urine 0080436 Method: Gas Chromatography/Mass Spectrometry | Pheochromocytoma tumor marker | ||
| Proinsulin/Insulin Ratio 0070256 Method: Refer to individual components | Neuroendocrine cancer tumor marker | ||
| Vasoactive Intestinal Peptide 0099435 Method: Radioimmunoassay | Neuroendocrine cancer tumor marker | ||
| Pancreatic Polypeptide 0099436 Method: Radioimmunoassay | Neuroendocrine cancer tumor marker | ||
Lung Tumors | Test Name and Number | Comments | ||
|---|---|---|---|
| Neuron Specific Enolase 0098198 Method: Enzyme-Linked Immunosorbent Assay | SCLC tumor marker | ||
| Chromogranin A 0080469 Method: Enzyme Immunoassay | SCLC tumor marker | ||
| Cytokeratin 19 Fragment (CYFRA 21-1), Serum 0081344 Method: Enzyme-Linked Immunosorbent Assay | SCLC tumor marker | ||
| Soluble Mesothelin Related Peptides (MESOMARK®) 0081284 Method: Enzyme-Linked Immunosorbent Assay | Mesothelioma tumor marker | ||
Female Gynecologic/Genitourinary | Test Name and Number | Comments | ||
|---|---|---|---|
| HER-2/neu (PATHWAY®) (4B5) Tissue Assay, Paraffin 2002218 Method: Immunohistochemistry | Breast cancer tumor marker (test is graded 0-3 in a semi-quantitative manner) | ||
| HER-2/neu (PATHWAY®) (4B5) with Reflex to FISH if 2+ 2002217 Method: Immunohistochemistry | Breast cancer tumor marker (test is graded 0-3 in a semi-quantitative manner) | ||
| HER-2/neu (PATHWAY®) (4B5) with Reflex to FISH if 2+ or 3+ 2002216 Method: Immunohistochemistry | Breast cancer tumor marker (test is graded 0-3 in a semi-quantitative manner) | ||
| HercepTest® Tissue Assay, Paraffin 0049174 Method: Immunohistochemistry | Breast cancer tumor marker (test is graded 0-3 in a semi-quantitative manner) | ||
| HER-2/neu by FISH (PathVysion™ HER-2) 0049218 Method: Fluorescence in situ Hybridization | Breast cancer tumor marker | ||
| HER-2/neu by CISH (SPOT-Light®) 2002443 Method: Chromogenic in situ Hybridization | Breast cancer tumor marker | ||
| HER-2 Gene Amplification by Monoplex PCR, Paraffin 0049390 Method: Monoplex Polymerase Chain Reaction | Breast cancer tumor marker | ||
| Estrogen/Progesterone Receptor Assay, Paraffin 0049210 Method: Immunohistochemistry | Breast cancer tumor marker | ||
| Cancer Antigen-Breast (CA 15-3) 0080464 Method: Electrochemiluminescent Immunoassay | Breast cancer tumor marker | ||
| Cancer Antigen 27.29 0080392 Method: Chemiluminescent Immunoassay | Breast cancer tumor marker | ||
| Carcinoembryonic Antigen 0080080 Method: Electrochemiluminescent Immunoassay | Breast cancer tumor marker | ||
| Ki-67 Tissue Assay, Paraffin 0049270 Method: Immunohistochemistry | Breast cancer tumor marker | ||
| HER-2/neu, Serum 0098615 Method: Enzyme-Linked Immunosorbent Assay | Breast cancer tumor marker | ||
| p53 Tissue Assay, Paraffin 0049250 Method: Immunohistochemistry | Breast cancer tumor marker | ||
| Cytology, ThinPrep® Pap with Reflex to Human Papillomavirus (HPV) DNA Probe, High Risk 8100212 Method: ThinPrep® 2000 System/Routine Cytopathologic Evaluation/Nucleic Acid Probe | Cytologic screening for cervical cancer and its usual precursor lesions | ||
| Human Papillomavirus (HPV) DNA Probe, High Risk SurePath® (AutoCyte) with Reflex to Genotyping 0060817 Method: Nucleic Acid Probe/Polymerase Chain Reaction | Cervical cancer tumor marker | ||
| Human Papillomavirus (HPV) DNA Probe, High Risk, Cervical Brush (Digene) with Reflex to Genotyping 0060818 Method: Nucleic Acid Probe/Polymerase Chain Reaction | Cervical cancer tumor marker | ||
| Human Papillomavirus (HPV) DNA Probe, High Risk ( ThinPrep®) with Reflex to Genotyping 0060816 Method: Nucleic Acid Probe/Polymerase Chain Reaction | Cervical cancer tumor marker | ||
| Squamous Cell Carcinoma Antigen, Serum 0081054 Method: Enzyme-Linked Immunosorbent Assay | Cervical cancer tumor marker | ||
| Human Papillomavirus (HPV) DNA Probe, High Risk, Cervical Brush (Digene) 0065999 Method: Nucleic Acid Probe | Cervical cancer tumor marker | ||
| Human Papillomavirus (HPV) DNA Probe, High Risk SurePath® (AutoCyte) 0060744 Method: Nucleic Acid Probe | Cervical cancer tumor marker | ||
| Human Papillomavirus (HPV) DNA Probe, High Risk (ThinPrep®) 0060750 Method: Nucleic Acid Probe | Cervical cancer tumor marker | ||
| Human Papillomavirus (HPV) High Risk in situ Hybridization, Paraffin 2002899 Method: In situ Hybridization | Cervical cancer tumor marker | ||
| Cancer Antigen 125 0080462 Method: Electrochemiluminescent Immunoassay | Ovarian cancer tumor marker | ||
| Human Epididymis Protein 4 (HE4) 2003020 Method: Enzyme Immunoassay | Ovarian cancer tumor marker | ||
| Beta-hCG, Quantitative (Tumor Marker) 0070029 Method: Chemiluminescent Immunoassay | Gestational trophoblastic disease tumor marker | ||
| Bladder Tumor Associated Antigen 8100500 Method: Qualitative Immunoassay | Urine-based bladder cancer tumor marker | ||
| UroVysion™ FISH 8100600 Method: Fluorescence in situ Hybridization/Automated Image Analysis or Manual Screening | Urine-based bladder cancer molecular genetic test | ||
Male Genitourinary | Test Name and Number | Comments | ||
|---|---|---|---|
| Prostate Specific Antigen, Ultrasensitive 0098581 Method: Electrochemiluminescent Immunoassay | Prostate cancer tumor marker | ||
| Prostate Specific Antigen, Total with Reflex to Free PSA (Includes Free Percentage) 0080264 Method: Electrochemiluminescent Immunoassay | Prostate cancer tumor marker | ||
| Prostate Specific Antigen, 0070121 Method: Electrochemiluminescent Immunoassay | Tumor marker for prostate cancer recurrence after radical prostatectomy | ||
| PCA3 - Prostate Cancer Biomarker 2001999 Method: Transcription-mediated Amplification/Hybridization Protection Assay | Prostate cancer tumor marker; consider performing if PSA is >10 ng/mL and prostate biopsy negative | ||
| Bladder Tumor Associated Antigen 8100500 Method: Qualitative Immunoassay | Urine-based bladder cancer tumor marker | ||
| NMP22® 0080281 Method: Enzyme Immunoassay | Male bladder cancer tumor marker | ||
| UroVysion™ FISH 8100600 Method: Fluorescence in situ Hybridization/Automated Image Analysis or Manual Screening | Urine-based bladder cancer tumor marker | ||
| Beta-hCG, Quantitative (Tumor Marker) 0070029 Method: Chemiluminescent Immunoassay | Testicular cancer (germ cell) tumor marker | ||
| Alpha Fetoprotein, Serum (Tumor Marker) 0080428 Method: Electrochemiluminescent Immunoassay | Testicular cancer (germ cell) tumor marker | ||
Brain | Test Name and Number | Comments | ||
|---|---|---|---|
| 1p/19q, d(1;19) Deletion by FISH 0049360 Method: Fluorescence in situ Hybridization | |||
Soft Tissue/Sarcomas | Test Name and Number | Comments | ||
|---|---|---|---|
| EWSR1 Break Apart Rearrangement by FISH 0049335 Method: Fluorescence in situ Hybridization | Ewing sarcoma tumor marker | ||
| SYT-SSX t(X;18) Translocations by RT-PCR 0040114 Method: Reverse Transcription Polymerase Chain Reaction/Fluorescence Monitoring | Sarcomas tumor marker | ||
| SYT Rearrangement by FISH 0049380 Method: Fluorescence in situ Hybridization | Sarcomas tumor marker | ||
| Kaposi Sarcoma-Associated Herpesvirus/Human Herpesvirus 8 0055629 Method: Polymerase Chain Reaction/Fluorescence Monitoring | Sarcomas tumor marker | ||
| PAX-FKHR Translocation by RT-PCR 0040113 Method: Reverse Transcription Polymerase Chain Reaction/Fluorescence Monitoring | Rhabdomyosarcoma tumor marker | ||
| Murine Double Minute 2 by FISH 2003016 Method: Fluorescence in situ Hybridization | Sarcomas tumor marker | ||
Lymphoma | Test Name and Number | Comments | ||
|---|---|---|---|
| bcl-2/JH, t(14;18) Translocation by PCR, Fluid 0055616 Method: Polymerase Chain Reaction | Non-Hodgkin lymphoma (NHL) tumor marker | ||
| bcl-1/JH, t(11;14) Translocation by PCR, Fluid 0055557 Method: Polymerase Chain Reaction | NHL tumor marker | ||
| Chromosome FISH, Interphase 2002298 Method: Fluorescence in situ Hybridization | Monitor disease and identify specific abnormalities suspected clinically Specific FISH probes must be requested – ARUP Oncology FISH Probes menu | ||
| API2-MLT1, t(11;18) Translocation by RT-PCR 0055691 Method: Reverse Transcription Polymerase Chain Reaction | Tumor marker for leukemia lymphoma phenotyping and mucosa-associated lymphoid tissue lymphoma (MALT) | ||
| t(11;14) IgH-CCND1 Translocation by FISH 0049381 Method: Fluorescence in situ Hybridization | Lymphoma classification/identification tumor marker | ||
| LSI MYC t(8q;24) by FISH 2002345 Method: Fluorescence in situ Hybridization | Burkitt lymphoma tumor marker | ||
Leukemia | Test Name and Number | Comments | ||
|---|---|---|---|
| Chromosome FISH, CLL Panel 2002295 Method: Fluorescence in situ Hybridization | Chronic lymphocytic leukemia (CLL) tumor marker | ||
| Chromosome FISH, Interphase 2002298 Method: Fluorescence in situ Hybridization | Monitor disease and identify specific abnormalities suspected clinically Specific FISH probes must be requested – ARUP Oncology FISH Probes menu | ||
| E2A-PBX1, t(1;19) Translocation by RT-PCR 0055346 Method: Reverse Transcription Polymer/Polymerase Chain Reaction | Acute lymphocytic leukemia (ALL) tumor marker | ||
| TEL-AML1, t(12;21) Translocation by RT-PCR 0056008 Method: Reverse Transcription Polymerase Chain Reaction | ALL tumor marker | ||
| BCR-ABL, t(9;22) Translocation Quantitative Assay by RT-PCR 0051066 Method: Reverse Transcription Polymerase Chain Reaction/Fluorescence Monitoring | ALL tumor marker | ||
| AML1-ETO, t(8;21) Translocation by RT-PCR 0050444 Method: Reverse Transcription Polymerase Chain Reaction | Acute myelogenous leukemia (AML) tumor marker | ||
| inv(16) for AML (CBFB-MYH11) by RT-PCR 0092209 Method: Reverse Transcription Polymerase Chain Reaction | AML tumor marker | ||
| PML/RARα FISH 2002363 Method: Fluorescence in situ Hybridization | AML tumor marker | ||
| ZAP-70 Analysis by Flow Cytometry 0092392 Method: Flow Cytometry | AML tumor marker | ||
| BCR-ABL1 Kinase Domain Mutation Analysis 0040138 Method: Polymerase Chain Reaction/Sequencing | Tumor marker to monitor drug therapy for chronic myelogenous leukemia (CML) patients | ||
Myeloproliferative Neoplasms | Test Name and Number | Comments | ||
|---|---|---|---|
| JAK2 Gene, V617F Mutation, Quantitation 0040168 Method: Polymerase Chain Reaction | Myeloproliferative neoplasms (MPN) tumor marker | ||
| JAK2 Gene, V617F Mutation, Qualitative 0051245 Method: Polymerase Chain Reaction | MPN tumor marker | ||
| JAK2 Exon 12 Mutation Analysis by PCR 2002357 Method: Polymerase Chain Reaction | MPN tumor marker | ||
Childhood Tumors | Test Name and Number | Comments |
|---|---|
| Neuron Specific Enolase 0098198 Method: Enzyme-Linked Immunosorbent Assay | Marker for germ cell tumors |
| N-myc by FISH 0049235 Method: Fluorescence in situ Hybridization | Neuroblastoma (childhood tumors) tumor marker |
| Homovanillic Acid (HVA), Urine 0080422 Method: High Performance Liquid Chromatography | Neuroblastoma (childhood tumors) tumor marker |
| Vanillylmandelic Acid (VMA) & Homovanillic Acid (HVA), Urine 0080470 Method: High Performance Liquid Chromatography | Neuroblastoma (childhood tumors) tumor marker |
| Catecholamines Fractionated by LC-MS/MS, Urine Free 0080407 Method: Tandem Mass Spectometry | Neuroblastoma (childhood tumors) tumor marker |
| MLL-AF4, t(4;11) Translocation by RT-PCR 0050446 Method: Reverse Transcription Polymerase Chain Reaction | Infant leukemia tumor marker |
| Chromosome FISH, Interphase 2002298 Method: Fluorescence in situ Hybridization | Monitor disease and identify specific abnormalities suspected clinically Specific FISH probes must be requested – ARUP Oncology FISH Probes menu |
| LSI MYC t(8q;24) by FISH 2002345 Method: Fluorescence in situ Hybridization | Burkitt lymphoma tumor marker |
Skin | Test Name and Number | Comments |
|---|---|
| S-100B Protein, Serum 2001766 Method: Enzyme-Linked Immunosorbent Assay | Monitor treatment and determine prognosis in patients with melanoma |
| NRAS Mutation Detection by Pyrosequencing 2003123 Method: Polymerase Chain Reaction/Pyrosequencing | Use in metastatic tumors to predict response to EGFR-directed therapy |
| BRAF V600E Mutation Detection by PCR 2002498 Method: Polymerase Chain Reaction/Fluorescence Monitoring | Predict response to EGFR-directed therapy |
| KIT Mutations, Melanoma 2002695 Method: Polymerase Chain Reaction/High Resolution Melt Analysis | Predict response to EGFR-directed therapy |
Head & Neck | Test Name and Number | Comments | ||
|---|---|---|---|
| Squamous Cell Carcinoma Antigen, Serum 0081054 Method: Enzyme-Linked Immunosorbent Assay | Tumor marker for NSCLC, head and neck cancer - squamous cell carcinoma (SCC) | ||
| Human Papillomavirus (HPV) High Risk in situ Hybridization, Paraffin 2002899 Method: In situ Hybridization | |||
| Epstein-Barr Virus (EBV) by in situ Hybridization, Paraffin 2002902 Method: In situ Hybridization | |||
Thyroid/Parathyroid | Test Name and Number | Comments | ||
|---|---|---|---|
| Thyroglobulin, Serum or Plasma 0070421 Method: Chemiluminescent Immunoassay | Thyroid cancer tumor marker | ||
| Thyroglobulin Antibody 0050105 Method: Chemiluminescent Immunoassay | |||
| BRAF V600E Mutation Detection by PCR 2002498 Method: Polymerase Chain Reaction/Fluorescence Monitoring | Thyroid cancer tumor marker | ||
| Thyroglobulin, Fine Needle Aspiration (FNA) 0020753 Method: Chemiluminescent Immunoassay | |||
| Parathyroid Hormone, Intact with Calcium 0070172 Method: Electrochemiluminescent Immunoassay | Parathyroid cancer tumor marker | ||
| Multiple Endocrine Neoplasia Type 2 (MEN2), RET Gene Mutations by Sequencing 0051390 Method: Polymerase Chain Reaction/Sequencing | Hereditary thyroid cancer genetic marker | ||
| Multiple Endocrine Neoplasia Type 2B (RET) 2 Mutations 0051492 Method: Polymerase Chain Reaction/Fluorescence Monitoring | Hereditary thyroid cancer genetic marker | ||
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