Test Catalog

Test Id : CHRHB

Chromosome Analysis, Hematologic Disorders, Blood

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

Reflex Tests
Lists tests that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial tests.

Test Id Reporting Name Available Separately Always Performed
_ML20 Metaphases, 1-19 No, Bill Only No
_M25 Metaphases, 20-25 No, Bill Only No
_MG25 Metaphases, >25 No, Bill Only No
_STAC Ag-Nor/CBL Stain No, Bill Only No

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

This test includes a charge for cell culture of fresh specimens and professional interpretation of results. Analysis charges will be incurred for total work performed, and generally include 2 banded karyograms and the analysis of 20 metaphase cells. If no metaphase cells are available for analysis, no analysis charges will be incurred. If additional analysis work is required, additional charges may be incurred.

 

This test is not appropriate for detecting constitutional/congenital chromosome abnormalities. If this test is ordered with a reason for referral indicating a concern for a constitutional/congenital chromosome abnormality, the test will be cancelled and CHRCB / Chromosome Analysis, Congenital Disorders, Blood will be added and performed as the appropriate test.

 

If this test is ordered and the laboratory is informed that the patient is on a COG protocol, this test will be canceled and automatically reordered by the laboratory as COGBL / Chromosome Analysis, Hematologic Disorders, Children’s Oncology Group Enrollment Testing, Blood.

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Method Name
A short description of the method used to perform the test

Cell Culture without Mitogens* followed by Chromosome Analysis*

 

*In addition to the cell culture without mitogens, a CpG stimulated culture will be added and 10 additional cells will be analyzed for any specimen received from a patient age 30 or older with a reason for referral of chronic lymphocytic leukemia (CLL), small lymphocytic lymphoma (SLL), lymphocytosis, Waldenstrom macroglobulinemia, or when CLLF / Chronic Lymphocytic Leukemia (CLL), FISH is ordered concurrently.

NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test

Chromosomes, Hematologic, Blood

Aliases
Lists additional common names for a test, as an aid in searching

Chromosome Analysis, Peripheral Blood Unstimulated

Hematologic Chromosome Analysis

Hematologic Karyotype

Karyotype, Peripheral Blood Unstimulated

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

This test includes a charge for cell culture of fresh specimens and professional interpretation of results. Analysis charges will be incurred for total work performed, and generally include 2 banded karyograms and the analysis of 20 metaphase cells. If no metaphase cells are available for analysis, no analysis charges will be incurred. If additional analysis work is required, additional charges may be incurred.

 

This test is not appropriate for detecting constitutional/congenital chromosome abnormalities. If this test is ordered with a reason for referral indicating a concern for a constitutional/congenital chromosome abnormality, the test will be cancelled and CHRCB / Chromosome Analysis, Congenital Disorders, Blood will be added and performed as the appropriate test.

 

If this test is ordered and the laboratory is informed that the patient is on a COG protocol, this test will be canceled and automatically reordered by the laboratory as COGBL / Chromosome Analysis, Hematologic Disorders, Children’s Oncology Group Enrollment Testing, Blood.

Specimen Type
Describes the specimen type validated for testing

Whole blood

Necessary Information

A pathology and/or flow cytometry report may be requested by the Genomics Laboratory to optimize testing and aid in interpretation of results.

Specimen Required
Defines the optimal specimen required to perform the test and the preferred volume to complete 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.

Additional Information: Advise Express Mail or equivalent if not on courier service.

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Forms

If not ordering electronically, complete, print, and send a Hematopathology/Cytogenetics Test Request (T726) with the specimen.

Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory

3 mL

Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected

All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

Specimen Stability Information
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included

Specimen Type Temperature Time Special Container
Whole blood Ambient (preferred)
Refrigerated

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 situations when tests are added to the initial order. This includes reflex and additional tests.

This test includes a charge for cell culture of fresh specimens and professional interpretation of results. Analysis charges will be incurred for total work performed, and generally include 2 banded karyograms and the analysis of 20 metaphase cells. If no metaphase cells are available for analysis, no analysis charges will be incurred. If additional analysis work is required, additional charges may be incurred.

 

This test is not appropriate for detecting constitutional/congenital chromosome abnormalities. If this test is ordered with a reason for referral indicating a concern for a constitutional/congenital chromosome abnormality, the test will be cancelled and CHRCB / Chromosome Analysis, Congenital Disorders, Blood will be added and performed as the appropriate test.

 

If this test is ordered and the laboratory is informed that the patient is on a COG protocol, this test will be canceled and automatically reordered by the laboratory as COGBL / Chromosome Analysis, Hematologic Disorders, Children’s Oncology Group Enrollment Testing, Blood.

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.

  

Conventional chromosome studies of B-cell disorders are not always successful because B-lymphocytes do not proliferate well in cell culture. The agent CpG 7909 (CpG) is a synthetic oligodeoxynucleotide that binds to the Toll-like receptor 9 (TLR9) present on B cells, causing B-cell activation. In the laboratory setting, CpG may be used as a mitogen to stimulate B-cells in patient specimens, thus allowing identification of chromosome abnormalities. CpG stimulation reveals an abnormal karyotype in approximately 80% of patients with of chronic lymphocytic leukemia (CLL), and the karyotype is complex in 20% to 25% of cases. Several studies have reported that increased genetic complexity revealed by CpG-stimulated chromosome studies confers a less favorable time to first treatment, treatment response, and overall survival.

 

See Laboratory Screening Tests for Suspected Multiple Myeloma in Special Instructions.

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.

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 and 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 CHRCB / Chromosome Analysis, 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
Recommendations for in-depth reading of a clinical nature

1. 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

2. Rigolin GM, Cibien F, Martinelli S, et al: Chromosome aberrations detected by conventional karyotyping using novel mitogens in chronic lymphocytic leukemia with "normal" FISH: correlations with clinicobiological parameters. Blood 2012 Mar 8;119(10):2310-2313

Special Instructions
Library of PDFs including pertinent information and forms related to the test

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 hypotonic solution, and are fixed with glacial acetic acid and methanol. Metaphase cells are dropped onto microscope slides and are stained by G-banding. Other staining methods are employed as needed. Twenty metaphases are usually examined. 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)

 

When a specimen is received from a patient age 30 or older with a reason for referral of chronic lymphocytic leukemia (CLL), small lymphocytic lymphoma (SLL), lymphocytosis, or Waldenstrom macroglobulinemia, a CpG-stimulated culture will be added and 10 additional cells will be analyzed. Additional metaphases may be analyzed from the unstimulated or CpG-stimulated cell cultures if necessary to provide an accurate interpretation. All metaphases 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 abnormalities.(Unpublished Mayo method)

PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information

No

Day(s) Performed
Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.

Monday through Friday

Report Available
The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.

9 to 11 days

Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded

Three weeks.

Performing Laboratory Location
Indicates the location of the laboratory that performs the test

Rochester

Fees
Several factors determine the fee charged to perform a test. Contact your U.S. or International Regional Manager for information about establishing a fee schedule or to learn more about resources to optimize test selection.

  • Authorized users can sign in to Test Prices for detailed fee information.
  • Clients without access to Test Prices can contact Customer Service 24 hours a day, seven days a week.
  • Prospective clients should contact their Regional Manager. For assistance, contact Customer Service.

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 instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR) 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 US 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 Clinic Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.

CPT codes are provided by the performing laboratory.

88237, 88291- Tissue culture for neoplastic disorders; bone marrow, blood, Interpretation and report

88264 w/ modifier 52-Chromosome analysis with less than 20 cells (if appropriate)

88264-Chromosome analysis with 20 to 25 cells (if appropriate)

88264,88285- Chromosome analysis with greater than 25 cells (if appropriate)

88283-Additional specialized banding technique (if appropriate)

 

 

LOINC® Information

Test Id Test Order Name Order LOINC Value
CHRHB Chromosomes, Hematologic, Blood 62348-8
Result Id Test Result Name Result LOINC Value
Result LOINC Value Tooltip
52391 Result Summary 50397-9
52393 Interpretation 69965-2
52392 Result 82939-0
CG778 Reason for Referral 42349-1
52394 Specimen 31208-2
52395 Source 31208-2
52397 Method 85069-3
52396 Banding Method 62359-5
54633 Additional Information 48767-8
52398 Released By 18771-6

Test Setup Resources

Setup Files
Test setup information contains test file definition details to support order and result interfacing between Mayo Clinic Laboratories and your Laboratory Information System.

Excel | Pdf

Sample Reports
Normal and Abnormal sample reports are provided as references for report appearance.

Normal Reports | Abnormal Reports

SI Sample Reports
International System (SI) of Unit reports are provided for a limited number of tests. These reports are intended for international account use and are only available through MayoLINK accounts that have been defined to receive them.

SI Normal Reports | SI Abnormal Reports