Test ID: HBL
Chromosome Analysis, Hematologic Disorders, Blood
Secondary ID 
A test code used for billing and in test definitions created prior to November 2011
NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.
Useful For Suggests clinical disorders or settings where the test may be helpful
Assisting in the classification and follow-up of certain malignant hematological disorders when bone marrow is not available
Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.
If this test is ordered with any of the following reasons, the test will be cancelled and CMS/8696 Chromosome Analysis, for Congenital Disorders, Blood will be added and performed as the appropriate test:
-Ambiguous genitalia
-Amenorrhea
-Autism
-Cerebral palsy
-Developmental delay
-Delayed puberty
-Dysmorphism
-Failure to thrive
-Familial chromosome anomaly
-Growth delay
-Heart defect
-Hypogonadism
-Infertility
-Lack of expect physiological development
-Learning disabilities
-Mental retardation
-Multiple congenital anomalies
-Multiple miscarriages
-Pregnancy loss
-Premature ovarian failure
-Rule out Down syndrome/trisomy 21
-Rule out Klinefelter syndrome/47,XXY
-Rule out trisomy 13/Patau syndrome
-Rule out trisomy 18/Edwards syndrome
-Rule out Turner syndrome/45,X
-Short stature
Method Name A short description of the method used to perform the test
Includes 2 banded karyograms, analysis of 20 or more metaphases, and other banding techniques when required.
Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name
Aliases Lists additional common names for a test, as an aid in searching
Hematologic Chromosome Analysis
Hematologic Karyotype
Karyotype, Peripheral Blood Unstimulated
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: 5-10 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Other anticoagulants are not recommended and are harmful to the viability of the cells.
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.
Reject Due To Identifies specimen types and conditions that may cause the specimen to be rejected
| Hemolysis | NA |
| Lipemia | NA |
| Icterus | NA |
| Other | NA |
Specimen Stability Information Provides a description of the temperatures required to transport a specimen to the laboratory. Alternate acceptable temperature(s) are also included.
| Specimen Type | Temperature | Time |
|---|---|---|
| WB Sodium Heparin | Ambient (preferred) | |
| Refrigerated | ||
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. Whenever possible, it is best to do chromosome studies for neoplastic hematologic disorders on bone marrow. Bone marrow studies are more sensitive and the chances of finding metaphases are about 95%, compared with only a 60% chance for blood studies. When it is not possible to collect bone marrow, chromosome studies on blood may be useful.
When blood cells are cultured in a medium without mitogens, the observation of any chromosomally abnormal clone may be consistent with a neoplastic process.
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.
Interpretation Provides information to assist in interpretation of the test results
The presence of an abnormal clone usually indicates a malignant neoplastic process.
The absence of an apparent abnormal clone in blood may result from a lack of circulating abnormal cells and not from an absence of disease.
On rare occasions, the presence of an abnormality may be associated with a congenital abnormality and, thus, not related to a malignant process. When this situation is suspected, 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
We recommend consultation with personnel from the Cytogenetics Laboratory when considering blood studies for hematologic disorders.
Bone marrow specimens are preferred over peripheral blood specimens for the diagnosis of neoplastic hematologic disorders. When peripheral blood must be used, FISH studies may detect some disorders better than conventional chromosome studies.
FISH studies will detect chromosome anomalies with prognostic significance much more often than conventional chromosome studies for:
-Chronic lymphocytic leukemia (CLL).
-Plasma cell proliferative disorders (PCPDs) such as multiple myeloma.
-FISH studies also may be superior for other hematological disorders when compared to conventional chromosome studies utilizing blood specimens.
This test is not useful for the following reasons/disorders: multiple miscarriages, infertility, pregnancy loss, multiple congenital anomalies, developmental delay, Down syndrome, Turner syndrome, premature ovarian failure, amenorrhea, ambiguous genitalia, and other congenital abnormalities. The appropriate test for these situations is CMS/8696 Chromosome Analysis, for Congenital Disorders, Blood.
Interfering factors:
Technical:
-Cell lysis caused by forcing blood quickly through the needle at collection
-Use of an improper anticoagulant (sodium heparin is best) or improperly mixing the blood with the anticoagulant
-Excessive transport time
-Exposure of the specimen to temperature
Biological:
-Abnormalities missed due to sampling error
-Subtle structural chromosome abnormalities may be missed occasionally
-Neoplastic cells not dividing or not circulating in the bloodstream
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, 2nd edition. Edited by KD McClatchey. Baltimore, Williams & Wilkens, 2002, pp 658-685
Method Description Describes how the test is performed and provides a method-specific reference
A cell count is performed to establish a plating volume. Based on the cell count, a corresponding volume of blood 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 a hypotonic solution, and fixed with glacial acetic acid and methanol. Metaphase cells are dropped onto microscope slides and are routinely stained by G-banding, but other staining methods are 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 abnormality and to permit systematic interpretation of the anomalies.(Unpublished Mayo method)
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
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.
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 |
|---|---|---|
| 16059 | Specimen | 31208-2 |
| 16328 | Specimen ID | N/A |
| 16783 | Source | N/A |
| 16060 | Order Date | N/A |
| G_540 | Reason For Referral | 42349-1 |
| 16064 | Method | In Process |
| 50467 | Banding Methods | 62359-5 |
| 16066 | Results | 29770-5 |
| 16067 | Interpretation | 69965-2 |
| 16068 | Amendment | In Process |
| 16069 | Consultant | N/A |
| 16070 | Report Date | N/A |
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