Chromosome Analysis, Solid Tumors
NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.
Assisting in the classification of malignant tumors associated with chromosomal abnormalities
Includes 2 banded karyograms, analysis of 20 or more metaphases, and other techniques when required.
Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name
Chromosomes, Solid Tumor
Karyotype, Solid Tumor
Specimen Type Describes the specimen type needed for testing
Specimen Required Defines the optimal specimen. This field describes the type of specimen required to perform the test and the preferred volume to complete testing. The volume allows automated processing, fastest throughput and, when indicated, repeat or reflex testing.
Provide a reason for referral with each specimen. The laboratory will not reject testing if this information is not provided, but appropriate testing and interpretation may be compromised or delayed. Include pathology reports, if available.
Container/Tube: Sterile container with sterile Hank's balanced salt solution (Supply T132), Ringer's solution, or normal saline
Specimen Volume: 0.5-3 cm(3) or larger
Additional Information: Advise Express Mail or equivalent if not on courier service.
Forms: If not ordering electronically, submit a Cytogenetics Hematologic Disorders Request Form (Supply T607) with the specimen.
Specimen Minimum Volume Defines the amount of specimen required to perform an assay once, including instrument and container dead space. Submitting the minimum specimen volume makes it impossible to repeat the test or perform confirmatory or perform reflex testing. In some situations, a minimum specimen volume may result in a QNS (quantity not sufficient) result, requiring a second specimen to be collected.
Specimen Stability Information Provides a description of the temperatures required to transport a specimen to the laboratory. Alternate acceptable temperature(s) are also included.
Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
Most malignant neoplasms are associated with clonal genetic abnormalities and the observation of an abnormal cytogenetic clone is consistent with a neoplasm. In many instances, these abnormalities can be demonstrated by cytogenetic analysis. Some physicians now consider cytogenetic analysis a useful laboratory test to determine the neoplastic potential of solid tumors.
For some tumors, cytogenetic analysis can help classify solid tumors. For example, an X;18 translocation has been specifically associated with synovial sarcoma, many alveolar rhabdomyosarcomas have an associated 2;13 translocation, and nearly every myxoid liposarcoma has a 12;16 translocation. A complete summary of the correlation between tumor histology and specific chromosome anomalies is too extensive to summarize here. The reader is referred to the Mitelman Database of Chromosome Aberrations in Cancer (2001). Edited by F Mitelman, B Johansson, F Mertens.Available at http://cgap.nci.nih.gov/Chromosomes/Mitelman
Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.
46,XX or 46,XY. No apparent chromosome abnormality.
An interpretive report will be provided.
The observation of a chromosomally abnormal clone is evidence of a clonal neoplastic process.
Certain chromosome abnormalities may also be specifically associated with certain morphologic classifications. In many tumors, the cytogenetic interpretation may be complicated by the observation of numerous complex chromosome anomalies. Nevertheless, the presence of certain chromosome abnormalities within a complex karyotype may still aid in classifying the tumor. However, a normal karyotype does not eliminate the possibility of a neoplastic process. Additionally, FISH testing or other strategies may be more appropriate for certain tumor types.
On rare occasions, the presence of an abnormality may be associated with a congenital abnormality that is not related to a malignant neoplastic process. Follow-up with a medical genetics consultation is recommended.
Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
-Lack of viable cells
-Cell death due to failure to transport tissue in an appropriate media
-Excessive transport time
-Exposure of the specimen to temperature extremes (freezing or >30 degrees C)
-Specimen has been stored or treated with formalin or another fixative or is paraffin-embedded
-Numerous complex anomalies making cytogenetic interpretation difficult beyond establishing the presence of an abnormal clone
-Normal metaphases may be present from tissue within and surrounding the tumor. Normal cells may grow better than cells of the tumor and interfere with the cytogenetic studies
Clinical Reference Provides recommendations for further in-depth reading of a clinical nature
Sandberg AA, Turc-Carel C, Gemmell RM: Chromosomes in solid tumors and beyond. Cancer Res 1988;48:1049-1059
Method Description Describes how the test is performed and provides a method-specific reference
The tissue is dissociated using enzymes and/or mechanical means and transferred to culture coverslips and/or culture flasks. The cultures are incubated at 37 degrees C with 5% CO2, 5% O2, and 90% N2 for 1 to 10 days depending on cell growth. For harvesting, the cells are treated with colcemid and hypotonic solution, and fixed with glacial acetic acid and methanol. Metaphase cells are dropped onto microscope slides and are routinely stained by G- or Q-banding. Twenty metaphases are usually examined. However, if a clone is suspected, but not confirmed within 20 metaphases, 30 metaphases will be analyzed. Minimal evidence for the presence of an abnormal clone is defined as 2 or more metaphases with the same structural abnormality or chromosomal gain (trisomy), or 3 or more metaphases lacking the same chromosome. Five to 10 metaphases are captured using a computerized imaging system, and 1 or more representative karyograms from each clone are prepared to document the type of abnormality and to permit systematic interpretation of the anomalies. (De Fusco PA, Frytak S, Dahl RJ, et al: Cytogenetic studies in 11 patients with small cell carcinoma of the lung. Mayo Clin Proc 1989;64:168-176; Dewald GW, Dahl RJ, Spurbeck JL, et al: Chromosomally abnormal clones and nonrandom telomeric translocations in cardiac myxomas. Mayo Clin Proc 1987;62:558-567; Jenkins RB, Hay ID, Herath JF, et al: Frequent occurrence of cytogenetic abnormalities in sporadic nonmedullary thyroid carcinoma. Cancer 1990; 66:1213-1220; Mitelman Database of Chromosome Aberrations in Cancer . Edited by F Mitelman, B Johansson, F Mertens. Available at URL: http://cgap.nci.nih.gov/Chromosomes/Mitelman)
Day(s) and Time(s) Test Performed Outlines the days and times the test is performed. This field reflects the day and time the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time required before the test is performed. Some tests are listed as continuously performed, which means assays are performed several times during the day.
Samples processed Monday through Sunday. Results reported Monday through Friday, 8 a.m.-5 p.m. CST.
Analytic Time Defines the amount of time it takes the laboratory to setup and perform the test. This is defined in number of days. The shortest interval of time expressed is "same day/1 day," which means the results may be available the same day that the sample is received in the testing laboratory. One day means results are available 1 day after the sample is received in the laboratory.
15 to 50 days, depending on culture growth
Maximum Laboratory Time Defines the maximum time from specimen receipt at Mayo Medical Laboratories until the release of the test result
Specimen Retention Time Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded
Cell pellet: Indefinitely
Performing Laboratory Location The location of the laboratory that performs the test
Test Classification Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer's instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR), Investigation Use Only (IUO) product, or a Research Use Only (RUO) product.
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.
CPT Code Information Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Medical Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.
88239-Tissue culture for tumor
88291-Interpretation and report
88299-Unlisted cytogenetic study (Refer to patient report to apply the appropriate CPT code below in place of this unlisted cytogenetic study CPT code)
Based on the total number of cells analyzed and counted, MML would recommend the following:
Chromosome analysis with less than 5 cells; CPT Code 88261 w/ modifier 52
Chromosome analysis with 5 to 14 cells; CPT Codes 88261, 88285
Chromosome analysis with 15 to 19 cells; CPT Code 88262
Chromosome analysis with 20 to 25 cells; CPT Code 88264
Chromosome analysis with more than 25 cells; CPT Codes 88264, 88285
LOINC® Code Information Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the result codes returned for this test or profile.
|Result ID||Reporting Name||LOINC Code|
|G_471||Reason for Referral||42349-1|