Skip Navigation U.S. Department of Health and Human Services www.hhs.gov
Agency for Healthcare Research Quality www.ahrq.gov
Archive print banner

This information is for reference purposes only. It was current when produced and may now be outdated. Archive material is no longer maintained, and some links may not work. Persons with disabilities having difficulty accessing this information should contact us at: https://info.ahrq.gov. Let us know the nature of the problem, the Web address of what you want, and your contact information.

Please go to www.ahrq.gov for current information.

Database 2: One page profiles of current genetic tests (Continued)

Return to Contents

31. Epidermal growth factor receptor
Test name Epidermal growth factor receptor
Other names EGFR pharmDx, HER-1, Cetuximab (Erbitux) sensitivity
Description Dysregulation of the EGFR signaling pathway due to EGFR overexpression, genetic aberrations, or other causes leads to malignant transformation. Cetuximab inhibits binding of EGFR by EGF and transforming growth factor-α, thereby blocking downstream signal transduction pathways and arresting cell growth.
Purpose Diagnostic
Availability Commercial laboratories, academic hospitals
Specimen Tissue
Methodology IHC
Cancers Breast, prostate, lung, colorectal
Other cancers Head and neck
Clinical use(s)
  a) Routine:
  • Determine eligibility for cetuximab (Erbitux™) treatment
Source of information Quest Diagnostics and UpToDate™ Web sites
Exploratory Medline search (8/2/05)
  1. “receptor, epidermal growth factor” = 6,983 citations
  2. “lung neoplasms or colorectal neoplasms or breast neoplasms or prostatic neoplasms” = 151,099 citations
  3. “receptor, epidermal growth factor” and (b) = 1,358 citations

Return to Contents

32. Estrogen/progesterone receptor
Test name Estrogen/progesterone receptor
Other names ER/PR
Description Breast cancers are dependent upon estrogen and/or progesterone for growth and this effect is mediated through ERs and progesterone receptors (ER/PR). Both receptors may be over-expressed in malignant breast tissue.
Purpose Diagnostic, prognostic
Availability Commercial laboratories, academic hospitals
Specimen Tissue
Methodology IHC
Cancers Breast
Clinical use(s)
  a) Routine:
  • Predicts response to hormone therapy for women with advanced breast cancer and those receiving adjuvant treatment.
  • Prognosticates the aggressiveness of a tumor.
Source of information UpToDate™ Web site
Exploratory Medline search (8/2/05)
  1. “receptors, estrogen” = 10,705 citations
  2. “receptors, progesterone” = 3,898 citations
  3. “breast neoplasms” = 57,603 citations
  4. “receptor, estrogen” and “receptors, progesterone” and “breast neoplasm” = 1,452 citations

Return to Contents

33. Fecal globin
Test name Fecal globin
Other names InSure, FOBT
Description Cancerous and precancerous colorectal lesions tend to cause low-level bleeding. Annual screening with a fecal occult blood test (FOBT) can decrease colorectal cancer mortality by up to 33 percent.
Purpose Secondary prevention
Availability Commercial laboratories, academic hospitals
Specimen Stool
Methodology IHC
Cancers Colorectal
Clinical use(s)
  a) Routine:
  • Screen for lower gastrointestinal bleeding associated with colorectal cancer, adenomas, polyps, and other lower gastrointestinal conditions
Source of information Quest diagnostics, UpToDate™ Web sites
Exploratory Medline search (8/2/05)
  1. “occult blood” = 1,087 citations
  2. “colorectal neoplasm” = 37,826 citations
  3. “occult blood” and “colorectal neoplasm” = 825 citations

Return to Contents

34. FLT 3 mutation
Test name FLT 3 mutation
Description Mutations in FLT3 are common in AML and have been associated with poorer survival in children and in younger adults with normal cytogenetics receiving intensive chemotherapy.
Purpose Prognostic
Availability Quest Diagnostics
Specimen Blood
Methodology PCR
Cancers Acute myelogenous leukemia (AML)
Clinical use(s)
  a) Routine:
  • Predict survival in AML patients
Source of information Quest Diagnostics and UpToDate™ Web sites
Exploratory Medline search
  1. “receptor, protein, tyrosine kinase” = 28,203 citations
  2. “leukemia, myelocytic, acute” = 4,151 citations
  3. “receptor, protein, tyrosine kinase” and “leukemia, myelocytic, acute” = 125 citations

Return to Contents

35. HER-2/neu
Test name HER-2/neu
Other names c-erbB-2, trastuzumab (Herceptin) eligibility, HercepTest, PathVysion®
Description HER-2/neu is an oncogene encoding a growth factor receptor related to epidermal growth factor receptor (EGFR) and is amplified in approximately 25-30 percent of node-positive breast cancers. Overexpression of HER-2/neu is associated with decreased disease-free and overall survival. Over-expression of HER-2/neu may be used to identify patients who may be may benefit from trastuzumab (Herceptin™ ) and/or high dose chemotherapy. Trastuzumab is a humanized monoclonal antibody targeting the HER 2/neu (c-erbB-2) oncogene.
Purpose Diagnostic, prognostic
Availability Commercial laboratories, academic hospitals
Specimen Tumor tissue, serum
Methodology IHC, FISH, EIA
Cancers Breast
Other cancers HER2/neu may also be expressed in ovarian, gastric, colorectal, endometrial, lung, bladder, prostate, and salivary gland cancers.
Clinical use(s)
  a) Routine:
  • Assess prognosis of stage II, node positive breast cancer patients.
  • Predict disease-free and overall survival in patients with stage II, node positive breast cancer treated with adjuvant cyclophosphamide, doxorubicin, 5-fluorouracil chemotherapy.
  • Determine patient eligibility for Herceptin treatment.
  • College of American Pathologists (CAP) recommends FISH as an optimal method for HER2/neu testing; therefore, positive IHC results are usually confirmed by FISH testing.
Clinical use(s)
  b) Investigational
  • HER2/neu may also be expressed in ovarian, gastric, colorectal, endometrial, lung, bladder, prostate, and salivary gland.
Source of information Quest Diagnostics, LabCorp, Specialty Labs Web sites, UpToDate™
Exploratory Medline search (5/12/05)
  1. “receptor, erbB-2” = 4,028 citations
  2. “receptor, erbB-2” and “breast neoplasms” (55886) = 1,905 citations
  3. “receptor, erbB-2” and “ovarian neoplasms” (15334) = 239 citations

Return to Contents

36. 5-HIAA
Test name 5-HIAA
Other names 5-hydroxyindoleacetic acid
Description A serotonin analysis is most frequently performed for the diagnosis of carcinoid tumors of the small intestine. These tumors release large amounts of serotonin, which can produce the clinical syndrome of flushing, diarrhea, and right-sided heart failure. 5-HIAA is the final metabolite of serotonin and is the most frequently used diagnostic test for carcinoid tumors.
Purpose Diagnostic, prognostic
Availability Commercial laboratories, academic hospitals
Specimen Urine
Methodology Liquid chromatography
Cancers Carcinoid tumors
Clinical use(s)
  a) Routine:
  • Diagnosis of metastatic carcinoid tumors
Clinical use(s)
  b) Investigational
  • May be used as a prognostic factor in this disease; however, poor correlation exists between 5-HIAA level and clinical severity of carcinoid syndrome
Source of information LabCorp, UpToDate™ Web sites
Exploratory Medline search (8/2/05)
  1. “Hydroxyindoleacetic Acid” = 1,270 citations
  2. “Carcinoid tumor” = 2,255 citations
  3. “Hydroxyindoleacetic Acid” and “Carcinoid tumor” = 78 citations

Return to Contents

37. Human papillomavirus hybrid capture
Test name Human papillomavirus hybrid capture
Other names HPV, ThinPrep
Description Human papillomavirus (HPV) infection is a common infection that is associated with cancer. Although HPV infection does not always progress to cancer, > 93 percent of cervical cancer cases are associated with HPV. This test detects 13 viral strains that are associated with an intermediate to high risk of cancer.
Purpose Secondary prevention
Availability Commercial laboratories, academic hospitals
Specimen Pap smear
Methodology DNA probe cocktail
Cancers Cervical cancer
Clinical use(s)
  a) Routine:
  • Determine need for colposcopy in individuals with atypical squamous cells of uncertain significance (ASCUS) found on Pap test
  • Assist in guiding patient management (as adjunct to cervical cytology)
Source of information Quest Diagnostics, UpToDate™ Web sites
Exploratory Medline search (8/02/05)
  1. “Papillomavirus, Human” = 6,318 citations
  2. “Cervix Neoplasms” = 12,280 citations
  3. “Papillomavirus, Human” and “Cervix Neoplasms” 2,661 citations

Return to Contents

38. IgVh mutation analysis
Test name IgVh mutation analysis
Description Chronic lymphocytic leukemia (CLL) patients can be divided into two basic groups on the basis of the mutational status of the immunoglobulin heavy-chain variable-region (IgVH) gene in leukemic cells. Patients with IgVH mutations have longer survival than those without IgVH mutation. Thus, mutation analysis may be useful for planning management strategies.
Purpose Prognostic
Availability Commercial laboratories, academic hospitals
Specimen Blood, marrow
Methodology PCR
Cancers Chronic lymphocytic leukemia (CLL)
Clinical use(s)
  a) Routine:
  • Assess prognosis for patients with CLL.
Source of information Quest Diagnostics and UpToDate™ Web sites
Exploratory Medline search (8/2/05)
  1. “Immunoglobulin Variable Region” = 3,919 citations
  2. “Leukemia, Lymphocytic, Chronic” = 3,422 citations
  3. “Immunoglobulin Variable Region” and “Leukemia, Lymphocytic, Chronic” = 126 citations

Return to Contents

39. ImmunoCyt
Test name ImmunoCyt
Other names Mucin, CEA
Description An immunocytochemistry assay for the detection of tumor cells shed in the urine of patients previously diagnosed with bladder cancer. This test is intended to augment the sensitivity of cytology for the detection of tumor cells in the urine of individuals previously diagnosed with bladder cancer.
Purpose Recurrence, monitoring
Availability Commercial laboratories, academic hospitals
Specimen Urine
Methodology Cytology, ICC
Cancers Bladder cancer
Clinical use(s)
  a) Routine:
  • Detection of tumor cells in the urine of individuals previously diagnosed with bladder cancer
  • Indicated for use in conjunction with cytoscopy as an aid in the management of bladder cancer
Source of information LabCorp and UpToDate™ Web sites
Exploratory Medline search (8/2/05)
  1. “Carcinoembryonic Antigen” = 2,785 citations
  2. “Bladder Neoplasms” = 9,483 citations
  3. “Carcinoembryonic Antigen” and “Bladder Neoplasms” = 33 citations

Return to Contents

40. Kappa/lambda light chain
Test name Kappa/lambda light chain
Description Elevated serum levels of monoclonal free light chains are associated with malignant plasma cell proliferation (e.g., multiple myeloma), primary amyloidosis, and light chain deposition disease. The appearance of higher levels of free light chains in the urine may be indicative of kidney disease or malignant lymphoproliferative disease such as multiple myeloma.
Purpose Monitoring
Availability Commercial laboratories, academic hospitals
Specimen Serum, tissue, urine
Methodology IHC
Cancers Multiple myeloma, lymphoproliferative disorders
Other cancers Primary amyloidosis, light chain deposition disease
Clinical use(s)
  a) Routine:
  • Detection of multiple myeloma
Source of information Quest Diagnostics, UpToDate™ Web sites
Exploratory Medline search (8/2/05)
  1. “immunoglobulins, light chains” = 2,376 citations
  2. “multiple myeloma” = 6,154 citations
  3. “lymphoproliferative disorders” = 59,066 citations
  4. “immunoglobulins, light chains” and “multiple myeloma” = 258 citations
  5. “immunoglobulins, light chains” and “lymphoproliferative disorders” = 534 citations

Return to Contents

41. LAP
Test name LAP
Other names Leukocyte alkaline phosphatase
Description Low LAP scores have been associated with CML, PNH, and thrombocytopenic purpura. In CML, regardless of the total WBC, the LAP score remains low. High LAP scores have been seen in polycythemia vera, myelofibrosis, aplastic anemia, hairy cell leukemia, leukemoid reactions, and Hodgkin's disease.
Purpose Diagnostic, monitoring
Availability Commercial laboratories, academic hospitals
Specimen Blood, bone marrow
Methodology Enzyme assay
Cancers Chronic myelocytic leukemia (CML)
Other cancers Polycythemia vera, myelofibrosis, aplastic anemia, paroxysmal nocturnal hemoglobinuria, hairy cell leukemia, leukemoid reactions, lymphoma
Clinical use(s)
  a) Routine:
  • Aids in differential diagnosis of chronic myelocytic leukemia vs. leukamoid reaction
  • Aids in evaluation of polycythemia vera, myelofibrosis with myeloid metaplasia, and paroxysmal nocturnal hemoglobinuria
Clinical use(s)
  b) Investigational
  • Serial LAP scores can be a useful adjunct in evaluating the activity in Hodgkin's disease, as well as its response to therapy.
Source of information Quest Diagnostics, UpToDate™ Web sites
Exploratory Medline search (8/2/05)
  1. “alkaline phosphatase ” = 7,889 citations
  2. “testicular neoplasm ” = 4,487 citations
  3. “alkaline phosphatase ” and “testicular neoplasm” = 34 citations

Return to Contents

42. Lipid associated sialic acid
Test name Lipid associated sialic acid
Other names LASA; Lipid-Bound Sialic Acid
Description Elevations in blood LASA levels have been reported in patients with mammary (63 percent), gastroenteric (65 percent), pulmonary (79 percent), and ovarian (94 percent) neoplasms as well as those with leukemia (86 percent), lymphoma (87 percent), melanoma (84 percent), sarcoma (97 percent), and Hodgkin disease (91 percent). As a result, this assay may not have high specificity or sensitivity necessary for cancer detection.
Purpose Recurrence, monitoring
Availability Commercial laboratories, academic hospitals
Specimen Serum
Methodology Spectrophotometry
Cancers Breast, lung, colorectal, pancreas, ovarian, liver, lymphoma, leukemia, melanoma, neuroblastoma, uterine, sarcoma
Clinical use(s)
  b) Investigational
  • Monitoring the course of therapy
  • Detecting disease recurrence
Source of information LabCorps Web site
Exploratory Medline search (8/2/05)
  1. “lipid associated sialic acid.mp” = 15 citations
  2. “N-acetylneuraminic acid” = 1,496 citations
  3. “neoplasms” = 571,042 citations
  4. “lipid associated sialic acid.mp” and “neoplasms” = 9 citations
  5. “N-acetylneuraminic acid” and “neoplasms” = 194 citations

Return to Contents

43. Melaris
Test name Melaris
Other names p16
Description p16 is a tumor suppressor gene that regulates cellular proliferation and growth by acting as a cyclin-dependent kinase 4 (CDK4) inhibitor. This test determines if a patient has a p16 gene mutation, indicating a predisposition for melanoma and pancreatic cancer.
Purpose Primary prevention
Availability Myriadtests.com
Specimen Blood
Methodology PCR
Cancers Melanoma, pancreas
Clinical use(s)
  a) Routine:
  • Screening for hereditary melanoma
Source of information Myriad Tests Web site
Exploratory Medline search (8/2/05)
  1. “genes, p16” = 990 citations
  2. “melanoma” = 17,770 citations
  3. “neoplasms, pancreatic” = 12,470 citations
  4. “genes, p16” and “melanoma” = 136 citations
  5. “genes, p16” and “pancreatic neoplasms” = 66 citations

Return to Contents

44. MIB-1 antibody
Test name MIB-1 antibody
Other names Ki-67 antigen
Description There is a strong correlation between proliferation rate and clinical outcome in a variety of tumor types and measurement of cell proliferative activity is an important prognostic marker. This marker correlates with flow cytometric S-phase.
Purpose Prognostic
Availability Commercial laboratories, academic hospitals
Specimen Tissue
Methodology IHC
Cancers Breast, lymphomas, anaplastic large cell non-Hodgkin's lymphoma
Clinical use(s)
  a) Routine:
  • Tissue marker for large cell non-Hodgkin's lymphoma
  • Assess tumor proliferative rate, determine disease prognosis
  • Direct disease management
Source of information Quest Diagnostics, LabCorp, Specialty Laboratories Web sites
Exploratory Medline search (8/02/05)
  1. “Ki-67 Antigen” = 4,840 citations
  2. “Lymphoma, Non-Hodgkin” = 22160 citations
  3. “Ki-67 Antigen” and “Lymphoma, Non-Hodgkin” = 117 citations

Return to Contents

45. Micrometastasis detection
Test name Micrometastasis detection
Other names Cytokeratins
Description Cytokeratins are expressed by both normal and malignant epithelial cells, but not by lymph node or bone marrow cells. Thus, the presence of cytokeratin-positive cells in lymph nodes or the bone marrow is suggestive of metastatic tumor. Multiple chromosomal aberrations in these suspected cytokeratin-positive micrometastases further substantiate that these cells are tumor cells.
Purpose Recurrence, monitoring
Availability Commercial laboratories, academic hospitals
Specimen Marrow, tissue
Methodology IHC
Cancers Breast
Clinical use(s)
  a) Routine:
  • Detect micrometastases of epithelial cell origin (e.g., breast cancer)
  • Determine the stage of epithelial cancers
  • Predict cancer recurrence/relapse and overall prognosis
Source of information Specialty Laboratories, Quest Diagnostics Web sites
Exploratory Medline search (8/2/05)
  1. “cytokeratin” or “keratin” = 8,784 citations
  2. “Breast Neoplasms” = 57,603 citations
  3. “Neoplasm Metastasis” = 32,119 citations
  4. “cytokeratin” or “keratin” and “Breast Neoplasms” and “Neoplasm Metastasis” = 263 citations

Return to Contents

46. Microsatellite instability
Test name Microsatellite instability
Other names MSI, BAT 26, RER+
Description MSI is a marker for faulty DNA repair and is found in 90 percent of patients with hereditary non-polyposis colorectal cancer (HNPCC) but in only 15 percent of sporadic colorectal tumors. HNPCC (Lynch syndrome) is characterized by an autosomal dominant inheritance pattern of early-onset predisposition to colorectal cancer (average age 44 years). MSI is helpful in determining if colorectal cancer is due to HNPCC and whether further genetic testing of patients or their family members for HNPCC-associated mutations.
Purpose Primary and secondary prevention, diagnostic, prognostic
Availability Commercial labs, academic institutions
Specimen Blood, tumor tissue DNA
Methodology HPCR
Cancers Hereditary non-polyposis colorectal cancer
Clinical use(s)
  b) Investigational
  • Identify colorectal tumors with high microsatellite instability
  • Identify individuals at risk for HNPCC
  • Identifying HNPCC in affected patients is also important since close surveillance of at-risk family members has been found to reduce the rate of colorectal cancer and overall mortality by > 60 percent
Source of information Quest Diagnostics, LabCorp, Specialty Labs Web sites, UpToDate™
Exploratory Medline search (5/12/05)
  1. “microsatellite repeats” = 15,030 citations
  2. “colorectal neoplasms” = 36,712 citations
  3. “colorectal neoplasms, hereditary nonpolyposis” = 1,318 citations
  4. “microsatellite repeats” and “colorectal neoplasms” = 1,217 citations
  5. “microsatellite repeats” and “colorectal neoplasms, hereditary nonpolyposis” = 410 citations

Return to Contents
Proceed to Next Section

The information on this page is archived and provided for reference purposes only.

 

AHRQ Advancing Excellence in Health Care