Chromosome Analysis, Hematologic Disorders, Bone Marrow
NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.
Assisting in the diagnosis and classification of certain malignant hematological disorders
Evaluation of prognosis in patients with certain malignant hematologic disorders
Monitoring effects of treatment
Monitoring patients in remission
Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.
The following algorithms are available in Special Instructions:
-Acute Promyelocytic Leukemia: Guideline to Diagnosis and Follow-up
-Myelodysplastic Syndrome: Guideline to Diagnosis and Follow-up
-Myeloproliferative Neoplasm: A Diagnostic Approach to Bone Marrow Evaluation
-Malignant Lymphoma, Guideline for Bone Marrow Staging Studies
Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test
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, Hematolog, Bone Marrow
Chromosome Analysis, Bone Marrow
Hematologic Chromosome Analysis
Karyotype, Bone Marrow
Hematologic Chromosome Analysis
Karyotype, Bone Marrow
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.
Container/Tube: Green top (sodium heparin)
Specimen Volume: 2-3 mL
1. It is preferable to send the first aspirate from the bone marrow collection.
2. Invert several times to mix bone marrow.
3. Other anticoagulants are not recommended and are harmful to the viability of the cells.
Additional Information: Advise Express Mail or equivalent if not on courier service.
Forms: If not ordering electronically, please submit the following forms with the specimen:
-Hematopathology/Molecular Oncology Request Form (Supply T241)
-Cytogenetics Hematologic Disorders Request Form (Supply T607)
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.
|Bone Marrow||Ambient (preferred)|
Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
Chromosomal abnormalities play a central role in the pathogenesis, diagnosis, and monitoring of treatment of many hematologic disorders. Cytogenetic studies on bone marrow may be helpful in many malignant hematologic disorders as the observation of a chromosomally abnormal clone may be consistent with a neoplastic process.
Certain chromosome abnormalities may help classify a malignancy. As examples, the Philadelphia (Ph) chromosome, also referred to as t(9;22)(q34;q11.2), is usually indicative of chronic myelogenous leukemia (CML) or acute leukemia; t(8;21)(q22;q22) defines a subset of patients with acute myelogenous leukemia, M2; and t(8;14)(q24.1;q32) is associated with Burkitt leukemia/lymphoma.
Cytogenetic studies are also used to monitor patients with hematologic disorders and may identify disease progression, such as the onset of blast crisis in CML, which is often characterized by trisomy 8, isochromosome 17q, and multiple Ph chromosomes.
See An Expanded Algorithm for the Laboratory Evaluation of Suspected Multiple Myeloma in Special Instructions. Also see Diagnosis and Monitoring of Multiple Myeloma in Publications.
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 interpretative report will be provided.
To insure the best interpretation, it is important to provide some clinical information to verify the appropriate type of cytogenetic study is performed.
The following factors are important when interpreting the results:
-Although the presence of an abnormal clone usually indicates a malignant neoplastic process, in rare situations, the clone may reflect a benign condition.
-The absence of an abnormal clone may be the result of specimen collection from a site that is not involved in the neoplasm or may indicate that the disorder is caused by submicroscopic abnormalities that cannot be identified by chromosome analysis.
-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.
-On occasion, bone marrow chromosome studies are unsuccessful. If clinical information has been provided, we may have a FISH study option that could be performed.
Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
In some cases, FISH studies may detect some disorders better than conventional chromosome studies:
-For chronic lymphocytic leukemia (CLL), FISH studies will detect chromosome anomalies with prognostic significance much more often than conventional chromosome studies. We suggest FCLL/83089 Chronic Lymphocytic Leukemia (CLL), FISH.
-For plasma cell proliferative disorders (PCPDs) such as multiple myeloma, FISH studies will detect chromosome anomalies with prognostic significance much more often than conventional chromosome studies. We suggest FPCPD/83358 Plasma Cell Proliferative Disorder (PCPD), FISH.
-Excessive transport time
-Too little bone marrow specimen
-Not processing the bone marrow as indicated before shipping the specimen
-Not sending the first aspirate from the patient's bone marrow draw
-Abnormalities missed due to sampling error
-Subtle structural chromosome abnormalities may be missed occasionally
-Neoplastic cells not dividing
Clinical Reference Provides recommendations for further in-depth reading of a clinical nature
Dewald GW, Ketterling RP, Wyatt WA, Stupca PJ: Cytogenetic studies in neoplastic hematologic disorders. In Clinical Laboratory Medicine. Second edition. Edited by KD McClatchey. Baltimore, Williams and Wilkens, 2002, pp 658-685
Method Description Describes how the test is performed and provides a method-specific reference
A cell count is performed on the specimen to establish a plating volume. Based on the cell count, a corresponding volume of bone marrow is added to 2 culture flasks containing culture medium and incubated for 24 to 48 hours at 37 degrees C. In the harvest process, the cells are exposed to colcemid, and hypotonic solution and fixed with glacial acid and methanol. Metaphases cells are dropped onto microscope slides and are routinely stained by G-banding, but other staining methods are frequently employed as needed. 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 chromosome gain (trisomy), or 3 or more metaphases lacking the same chromosome. All cells analyzed are captured using a computerized imaging system, and 1 or more karyograms from each clone are prepared to document the type of abnormality and to permit systematic interpretation of the anomalies.(Dewald GW, Allen JE, Strutzenberg DK, Pierre RV: A cytogenetic method for mailed-in bone marrow specimens for the study of hematologic disorders. Lab Med 1982;13:225-229)
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.
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
Original specimen - 3 weeks Remaining 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.
88237-Tissue culture for neoplastic disorders; bone marrow, blood
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|
|16327||Specimen ID||In Process|
|G_786||Reason For Referral||42349-1|
|50462||Banding Methods||In Process|