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 It was current when produced and may now be outdated. Archive material is no longer maintained, and some links may not work.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
Return to Contents
Glossary of test acronyms used in this database
| Acronym |
Test |
| EIA |
Enzyme immunoassay |
| FISH |
Fluorescence in-situ hybridization |
| ICC |
Immunocytochemistry |
| ICMA |
Immunochemiluminometric assay |
| IHC |
Immunohistochemistry |
| IRMA |
Immunoradiometric assay |
| MEIA |
Microparticle enzyme immunoassay |
| PCR |
Polymerase chain reaction |
| RIA |
Radioimmunoassay |
| RT-PCR |
Reverse transcriptase polymerase chain reaction |
Profile Contents
1. Acid phosphatase, total and prostatic
2. Adrenocorticotropic hormone
3. Alpha fetoprotein
4. AML1/ETO translocation
5. B-cell gene rearrangement
6. BCL-1/JH gene rearrangement
7. BCL-2 translocation
8. BCR/ABL gene rearrangement
9. Beta human chorionic gonadotropin
10. Beta-2 microglobulin
11. Bladder tumor antigen
12. BRCA Analysis
13. Calcitonin
14. Cancer antigen 125
15. Cancer antigen 15-3
16. Cancer antigen 19-9
17. Cancer antigen 27.29
18. Carcinoembryonic antigen
19. Cathepsin D
20. CBFB/MYH11 fusion protein
21. CD 117, c-kit
22. CD 20
23. CD 25
24. CD 33
25. CD 52
26. Chromosome 18q assay
27. Colaris
28. Colaris AP
29. Cyclin-D1
30. E-cadherin
31. Epidermal growth factor
receptor
32. Estrogen/progesterone
receptor
33. Fecal globin
34. FLT 3 mutation
35. HER-2/neu
36. 5-HIAA
37. Human papillomavius hybrid
capture
38. IgVH mutation analysis
39. Immunocyt
40. Kappa/lambda light chain
41. LAP
42. Lipid associated sialic
acid
43. Melaris
44. MIB-1 antibody
45. Micrometastasis detection
46. Microsatellite
instability
47. MLH1, MSH2, MSH6
mutations
48. Neuron specific enolase
49. Nuclear matrix proteins
50. Oncotype Dx
51. p53 tumor suppressor gene
52. PML/RARA translocation
53. PreGen-26
54. PreGen-Plus
55. Prostate-specific antigen
56. T-cell recepter gene
rearrangment
57. TEL/AML1 gene fusion
58. Thyroglobulin
59. Tumor antigen 90 immune
complex
60. Urokinase plasminogen
activator
61. Urovysion
62. ZAP-70
Return to Contents
1. Acid phosphatase, total and prostatic
| Test name |
Acid phosphatase, total and prostatic |
| Other names |
PAP |
| Description |
Elevated levels of this enzyme are found in patients with metastatic
prostate cancer. PAP determination, in conjunction with PSA
measurements, is useful in assessing the prognosis of prostate cancer.
Concentrations of both the prostatic and nonprostatic forms of acid
phosphatase may be differentiated using tartrate. The activity of the
prostatic form of the enzyme is inhibited in the presence of tartrate. |
| Purpose |
Prognostic, recurrence, monitoring |
| Availability |
Commercial laboratories, academic hospitals |
| Specimen |
Serum, frozen |
| Methodology |
ICMA
Spectrophotometry - alpha-naphthol phosphate substrate with tartrate
inhibition for prostatic AcP determination |
| Cancers |
Prostate cancer |
Clinical use(s)
a) Routine: |
- used as an adjunct in confirming the clinical staging of prostate cancer.
- used with PSA to detect recurrence of prostate cancer in patients
who have been treated.
|
| Source of information |
LabCorp, Specialty Laboratories, UpToDate™ Web sites |
| Exploratory Medline search (5/25/05) |
- “Acid phosphatase” = 2010 citations, “prostate” =
6127 citations
- “Acid phosphatase” and “prostate” = 102 citations
- “Acid phosphatase” and “prostatic neoplasm” (24856)
= 111 citations
- “Total acid phosphatase” (21) and “prostatic neoplasm” =
4 citations
|
Return to Contents
2. Adrenocorticotropic hormone
| Test name |
Adrenocorticotropic hormone |
| Other names |
ACTH hormone |
| Description |
ACTH has been used in diagnosing disorders of the hypothalamicpituitary
system. It is useful in the differential diagnosis of Cushing
syndrome, ectopic ACTH syndrome, Addison disease, hypopituitarism,
and ACTH-producing pituitary tumors (e.g., Nelson syndrome). The most
common causes of ectopic ACTH syndrome are small (oat)-cell
carcinomas, carcinoid tumors, particularly bronchial carcinoids, islet cell
tumors, and pulmonary tumorlets. |
| Purpose |
Diagnostic |
| Availability |
Commercial laboratories, academic hospitals |
| Specimen |
plasma |
| Methodology |
ICMA |
| Cancers |
pituitary, adrenal |
| Other cancers |
Carcinoid, thyroid, pulminary, pancreas |
Clinical use(s)
a) Routine: |
- Used in the diagnosis of ectopic ACTH syndrome associated with
small cell carcinoma, carcinoid tumors, and islet cell tumors.
|
| Source of information |
Quest Diagnostics, LabCorps, Specialty Laboratories, UpToDate™ |
| Exploratory Medline search (5/26/05) |
- “corticotropin” = 6949 citations, “pituitary
gland” = 11,858 citations.
- “pituitary neoplasm” = 4542 citations
- “corticotropin” and “pituitary gland” = 1,873
citations
- “corticotropin” and “pituitary neoplasm” =
423 citations
- “corticotropin” and “ACTH syndrome, ectopic” =
84 citations
|
Return to
Contents
3. Alpha-Fetoprotein
| Test name |
Alpha-Fetoprotein |
| Other names |
AFP |
| Description |
Elevated serum AFP levels are most closely associated with nonseminomatous
testicular cancer and hepatocellular cancer. The rate of clearance from serum
after treatment is an indicator of the effectiveness of therapy. Conversely,
the growth rate of progressive disease can be monitored by serially measuring
serum AFP concentrations over time. |
| Purpose |
Secondary prevention, prognostic, recurrence, monitoring |
| Availability |
Commercial laboratories, academic hospitals |
| Specimen |
Serum protein |
| Methodology |
ICMA |
| Cancers |
Non-seminomatous testicular, hepatocellular |
| Other cancers |
AFP may also be elevated in malignant germ cell tumors of ovary and
testis, gastrointestinal, pancreatic, pulmonary cancer. |
Clinical use(s)
a) Routine: |
- distinguish between seminomatous and non-seminomatous testicular
germ cell cancer
- monitor effectiveness of therapy and detect recurrence in individuals
with non- seminomatous testicular germ cell cancer
- monitor effectiveness of therapy in individuals with hepatocellular carcinoma
- monitor hepatitis B carriers for evidence of liver cancer
|
Clinical use(s)
b) Investigational |
- elevated serum concentrations of AFP are found in 23 percent of patients
with pancreatic, gastric (18 percent), bronchogenic (7 percent)
and colonic carcinoma (5 percent), compared to 75 percent of patients
with non-seminomatous testicular cancer and 72 percent of patients
with hepatocellular cancer
|
| Source of information |
Quest Diagnostics, LabCorp, Specialty Laboratories Web sites |
| Exploratory Medline search (5/12/05) |
- “alpha-Fetoproteins” = 2608 citations, “testicular
neoplasms” = 4,401 citations
- “alpha-Fetoproteins” and “testicular neoplasm” =
113 citations
- “alpha-Fetoproteins” and “carcinoma, hepatocellular” (13840)
= 704 citations
- “alpha-Fetoproteins” and “pancreatic neoplasms” (12117)
= 27 citations
- “alpha-Fetoproteins” and “gastrointestinal neoplasms” (64300)
= 133 citations
- “alpha-Fetoproteins” and “lung neoplasms” (36152)
= 46 citations
- “alpha-Fetoproteins” and “ovarian neoplasms”(15334)
= 64 citations
|
Return to
Contents
4. AML1/ETO translocation
| Test name |
AML1/ETO translocation |
| Other names |
t(8:21) |
| Description |
The translocation t(8;21)(q22;q22) is one of the most common structural
chromosomal aberrations in patients with Acute Myeloid Leukemia (AML).
AML with t(8;21) has a mean onset age of about 30 years and is most
common in children and younger adults; it is relatively rare in elderly
patients. The presence of t(8;21) is associated with the highest complete
remission rate (90 percent) and the highest probability (50 percent-70
percent) of remaining in complete remission at 5 years. However, the
disease may become resistant to therapy upon relapse. |
| Purpose |
Diagnostic, prognostic, recurrence, monitoring |
| Availability |
Commercial laboratories, academic hospitals |
| Specimen |
Whole blood, bone marrow |
| Methodology |
PCR |
| Cancers |
Acute myeloid leukemia |
Clinical use(s)
a) Routine: |
- Diagnosis of acute myeloid leukemia (AML) with t(8;21) chromosome
translocation
- monitor treatment response
- Detect minimal residual disease (MRD or evidence for the presence of
residual cancer cells, even when so few malignant cells are present that they
cannot be detected by routine means)
- Predict early relapse
|
| Source of information |
Quest Diagnostics, LabCorp, UpToDate™ |
| Exploratory Medline search (6/01/05) |
- “AML1” = 853 citations, “ETO” = 469 citations
- “Leukemia, Myelocytic, Acute” = 4,057 citations
- “fusion protein” = 12,573 citations
- “Leukemia, Myelocytic, Acute” and “fusion protein” =
138 citations
- “AML1” and “ETO” = 138 citations
|
Return to
Contents
5. B-cell gene rearrangement
| Test name |
B-cell gene rearrangement |
| Description |
These additional studies are used to establish a definitive diagnosis.
They include molecular analysis of tumor material using PCR technology
to identify gene rearrangements known to be associated with B-cell malignancies.
Additionally the special tests can sometimes help to establish both the
lineage and the presence of prognostically significant subtypes of malignant
lymphoma. |
| Purpose |
Diagnostic, prognostic, recurrence |
| Availability |
Commercial laboratories, academic hospitals |
| Specimen |
Whole blood, bone marrow, or tissue |
| Methodology |
PCR |
| Cancers |
B-cell malignancies |
Clinical use(s)
a) Routine: |
- Diagnosis of B-cell malignancies
- Assist in determining disease prognosis and thus influence treatment
selection
- Detection of minimal residual disease or recurrent disease
|
| Source of information |
Quest Diagnostics, LabCorps Web sites |
| Exploratory Medline search (6/01/05) |
- “B-Lymphocytes” = 17,852 citations, “leukemia” =
38,022 citations
- “B-Lymphocytes” and “leukemia” =
1,047 citations
- “gene rearrangement” = 6,400 citations
- “B-Lymphocytes” and “gene
rearrangement” =
1,285 citations
- “leukemia” and “gene rearrangement” =
1,044 citations
|
Return to
Contents
6. bcl-1/JH t(11;14) Gene Rearrangement
| Test name |
bcl-1/JH t(11;14) Gene Rearrangement |
| Other names |
t(11;14) |
| Description |
The t(11;14)(q13;q32) rearrangement causes deregulation of the bcl-1
gene and over-expression of cyclin D1, which may in turn lead to lymphoma
genesis. The bcl-1 translocation is specific for mantle cell lymphoma |
| Purpose |
Diagnostic, prognostic, monitoring |
| Availability |
Commercial laboratories, academic hospitals |
| Specimen |
Whole blood, bone marrow, tissue |
| Methodology |
PCR |
| Cancers |
Mantle cell lymphoma |
Clinical use(s)
a) Routine: |
- Diagnosis of mantle cell lymphoma
- Assessment of therapeutic response
- Detect minimal residual disease (MRD)
- Predict early relapse
|
| Source of information |
Quest Diagnostics, LabCorp |
| Exploratory Medline search (6/01/05) |
- “genes, bcl-1” = 124 citations, “translocation” =
7,571 citations
- “mantle cell lymphoma” = 522 citations
- “cyclin D1” = 2,811 citations
- “mantle cell lymphoma” and “cyclin
D1” = 84 citations
|
Return to
Contents
7. BCL-2 translocation
| Test name |
BCL-2 translocation |
| Other names |
t(14:18) |
| Description |
The bcl-2 gene translocation, t(14;18), is the rearrangement of the bcl-2
proto-oncogene on chromosome 18 with the immunoglobulin heavy chain region
on chromosome 14. The bcl-2 translocation is a characteristic of Bcell
lymphomas. It is observed in 70 to 90 percent of follicular non-Hodgkin B-cell
lymphomas, 20 to 30 percent of large diffuse B-cell lymphomas, and 50 percent
of undifferentiated B-cell lymphomas, but not in other lymphomas. |
| Purpose |
Diagnostic, prognostic, recurrence, monitoring |
| Availability |
Commercial laboratories, academic hospitals |
| Specimen |
Blood, marrow, tissue |
| Methodology |
PCR |
| Cancers |
B-cell lymphomas |
Clinical use(s)
a) Routine: |
- Distinguish lymphoma from benign lymphoid hyperplasia
- Distinguish B-cell lymphoma from T-cell lymphoma
- Determine prognosis for patients with B-cell lymphomas
- Monitor B-cell lymphoma patients for minimal residual disease or
evidence of recurrence
|
| Source of information |
Quest Diagnostics, UpToDate™ Web sites |
| Exploratory Medline search (6/01/05) |
- “Translocation, Genetic”= 7,571 citations
- “BCL-2 gene” = 1,894 citations
- “Lymphoma, B-Cell”= 9,217 citations
- “BCL-2 gene” and “Lymphoma” = 92 citations
|
Return to
Contents
8. BCR-ABL
| Test name |
BCR-ABL |
| Other names |
Philadelphia chromosome |
| Description |
Bcr/abl fusion gene, formed by rearrangement of the breakpoint cluster
region (bcr) on chromosome 22 with the c-abl proto-oncogene on chromosome
9, is present in 95 percent of CML patients and 30 percent of ALL patients.
Identification of bcr/abl rearrangement is important for the diagnosis
of CML, whereas in ALL, presence of bcr/abl is associated with poor prognosis
and may warrant more aggressive therapy. In both diseases, increasing levels
of bcr/abl may be associated with clinical progression. |
| Purpose |
Diagnostic, prognostic, recurrence, monitoring |
| Availability |
Commercial laboratories, academic hospitals |
| Specimen |
Whole blood, bone marrow RNA |
| Methodology |
PCR, FISH |
| Cancers |
Chronic Myelogenous Leukemia (CML), Acute Lymphocytic Leukemia (ALL) |
Clinical use(s)
a) Routine: |
- Assist in diagnosis of CML
- Assess prognosis in ALL patients
- Detect minimal residual disease and monitor effectiveness of therapy
- Predict early relapse
|
| Source of information |
Quest Diagnostics, LabCorp, Specialty Labs Web sites, UpToDate™ |
| Exploratory Medline search (5/12/05) |
- “fusion proteins, bcr-abl” or “Philadelphia Chromosome” =
2,008 citations
- “leukemia, myeloid, chronic” = 4,926 citations
- “leukemia, lymphocytic, acute” = 4,027 citations
- “fusion proteins, bcr-abl” or “Philadelphia Chromosome”
and “myeloid leukemia, chronic” = 1,119 citations
- “fusion proteins, bcr-abl” or “Philadelphia Chromosome”
and “leukemia, lymphocytic, acute” = 151 citations
|
Return to
Contents
9. Beta human chorionic gonadotropin
| Test name |
Beta human chorionic gonadotropin |
| Other names |
beta-HCG |
| Description |
beta-hCG is detectable in the serum of 70 percent of patients with nonseminomatous
germ-cell tumors. Patients with a prolonged half life of beta -hCG (>3.5 days)
have an inferior overall and disease-free survival and may be candidates for high
dose chemotherapy. In germ cell tumors in the male, beta-hCG and alpha-fetoprotein
are both useful tumor markers. |
| Purpose |
Diagnostic, recurrence, monitoring |
| Availability |
Commercial laboratories, academic hospitals |
| Specimen |
Serum |
| Methodology |
ICMA |
| Cancers |
Germ cell tumors (e.g., teratoma, struma ovarii, dysgerminoma, yolk sac
tumor, embryonal carcinoma, and choriocarcinoma) |
| Other cancers |
Lung, pancreas, liver, stomach |
Clinical use(s)
a) Routine: |
- assist in the diagnosis of germ-cell tumors
- monitor response to trophoblastic tumor therapy
- detect disease recurrence
|
Clinical use(s)
b) Investigational |
- Monitor lung, pancreas, liver, stomach cancers
|
| Source of information |
LabCorp, UpToDate™, Specialty Labs Web sites |
| Exploratory Medline search (6/01/05) |
- “germinoma” = 2,695 citations
- "Chorionic Gonadotropin, beta Subunit, Human” = 1,148 citations
- “Chorionic Gonadotropin, beta Subunit, Human” and
“germinoma” = 67 citations
|
Return to
Contents
10. Beta 2-microglobulin
| Test name |
Beta 2-microglobulin |
| Description |
Beta 2-microglobulin is increased nonspecifically in active chronic
lymphocytic leukemia in which there is increased lymphocyte turnover.
Elevated levels of beta 2-microglobulin can be found in cerebral spinal
fluid (relative to serum) in acute lymphoblastic leukemia, lymphoma, and
other lymphoproliferative disorders. (Lymphoproliferative disorders refers
to a group of malignant diseases involving the lymphoid cells and cells
from the reticuloendothelial system, including lymphoma and posttransplant
lymphoproliferative disorder). Increased serum concentrations
of beta 2-microglobulin are good predictors of complete response and
time to treatment failure in low-grade lymphoma.
|
| Purpose |
Diagnostic, prognostic |
| Availability |
Commercial laboratories, academic hospitals |
| Specimen |
Serum |
| Methodology |
ICMA |
| Cancers |
Lymphoma, Hodgkin’s and Non-Hodgkin’s Lymphoma |
| Other cancers |
Multiple myeloma, chronic lymphocytic leukemia, and other indolent
lymphomas |
Clinical use(s)
a) Routine: |
- Assist in diagnosis of lymphoma and other lymphoproliferative diseases
- Predictive of response of low grade lymphoma
|
| Source of information |
LabCorp, Specialty Labs, UpToDate™ |
| Exploratory Medline search (6/01/05) |
- “Lymphoproliferative Disorders” = 57,926 citations
- “Leukemia, Lymphocytic, Chronic” = 3,353 citations
- “beta 2-Microglobulin” = 2,093 citations
- “Lymphoproliferative Disorders” and “beta
2-Microglobulin” = 195 citations
- “Leukemia, Lymphocytic, Chronic” and “beta
2-Microglobulin” = 19 citations
|
Return to
Contents
11 . Bladder Tumor Antigen
| Test name |
Bladder Tumor Antigen |
| Other names |
BTA |
| Description |
A biomarker that is currently being investigated for use in surveillance
following initial treatment of superficial bladder cancer.
|
| Purpose |
Recurrence, monitoring |
| Availability |
Commercial laboratories, academic hospitals |
| Specimen |
Urine |
| Methodology |
Cytology, EIA |
| Cancers |
Bladder |
| Other cancers |
Kidney and ureter |
Clinical use(s)
b) Investigational |
- Detection of tumor recurrence
|
| Source of information |
Quest Diagnostics, LabCorp, UpToDate™ Web sites |
| Exploratory Medline search (6/01/05) |
- “bladder neoplasms” = 9,404 citations
- “tumor markers, biological” = 50,524 citations
- “bladder neoplasms” and “tumor markers,
biological” = 1,090 citations
|
Return to
Contents
12. BRCA Analysis
| Test name |
BRCA Analysis |
| Other names |
BRCA1, BRCA2 |
| Description |
BRCA1 and BRCA2 are two susceptibility genes for breast cancer that are
inherited in an autosomal dominant fashion and account for one-fifth of
the familial risk of breast cancer. BRCA mutations are found in between
1 and 3.3 percent of American women with breast cancer who are unselected
for family history. However, the prevalence of a deleterious BRCA1 or BRCA2
mutation in women of Ashkenazi Jewish (Eastern European) descent is approximately
2 percent. |
| Purpose |
Primary prevention, prognostic |
| Availability |
Commercial laboratories, academic hospitals |
| Specimen |
Whole blood |
| Methodology |
PCR |
| Cancers |
Breast, ovarian |
| Other cancers |
Prostate, lymphoma, melanoma, cancers of the gallbladder, pancreas, stomach |
Clinical use(s)
a) Routine: |
- Detection of BRCA1 and BRCA2 mutations which are associated with the
majority of hereditary breast and ovarian cancers
- Presence of BRCA1/2 gene mutations in patients with breast cancer may
influence their treatment and management of their disease
- Presence of BRCA1/2 gene mutations in a cancer patient may also result in additional
testing for the mutation in family members of the BRCA positive patient
|
| Source of information |
Quest, LabCorp, UpToDate™ Web sites |
| Exploratory Medline search (8/02/05) |
- “Breast Neoplasms” = 57,232 citations
- “genes, BRCA1 or genes, BRCA2” = 2,188 citations
- “Breast Neoplasms” and “genes, BRCA1 or genes,
BRCA2” = 1,597 citations
|
Return to
Contents
13. Calcitonin
| Test name |
Calcitonin |
| Description |
High concentrations of calcitonin occur in patients with malignant parafollicular
or C-cell tumors of the thyroid gland. The doubling time of serum levels
of this hormone correlates with recurrence of tumors. |
| Purpose |
Secondary prevention, diagnostic, prognostic, recurrence |
| Availability |
Commercial laboratories, academic hospitals |
| Specimen |
Serum, frozen |
| Methodology |
ICMA |
| Cancers |
Thyroid gland |
| Other cancers |
Lung, breast, carcinoids, islet cell tumors, APUDomas |
Clinical use(s)
a) Routine: |
- Detection of C-cell hyperplasia (the precursor of medullary carcinoma
of thyroid)
- Used as a tumor marker for diagnosis and management of medullary carcinoma of
the thyroid gland
|
Clinical use(s)
b) Investigational |
- Preoperative serum calcitonin is reported to roughly correlate with
tumor weight or extent of disease
|
| Source of information |
LabCorps, Specialty Laboratories, Quest, UpToDate™ Web sites |
| Exploratory Medline search (08/02/05) |
- “calcitonin” = 2,434 citations
- “thyroid neoplasms” = 9,062 citations
- “calcitonin” and “thyroid neoplasms” =
311 citations
|
Return to Contents
Proceed to Next Section
|
5600 Fishers Lane Rockville, MD 20857