Test Catalog

Test Id : COGBL

Chromosome Analysis, Hematologic Disorders, Children's Oncology Group Enrollment Testing, Blood

Useful For
Suggests clinical disorders or settings where the test may be helpful

Evaluation of pediatric blood specimens for chromosomal abnormalities associated with hematologic malignancies for diagnostic and prognostic purposes in patients being considered for enrollment in Children's Oncology Group clinical trials and research protocols

 

This test is not useful for congenital disorders.

Highlights

Cytogenetics testing is important for the diagnostic and prognostic classification of pediatric neoplasia, and it is a critical element for enrollment of children into clinical trials affiliated with the Children's Oncology Group (COG). For over 25 years the Mayo Clinic Genomics Laboratory has served as one of a select number of laboratories in the United States approved by the COG for the conventional chromosome analysis and fluorescence in situ hybridization analysis of pediatric bone marrow, peripheral blood, and tissue specimens.

 

All enrollment-required elements of cytogenetics testing will be electronically submitted by the Mayo Clinic Genomics laboratory within the guidelines of COG.

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
ML20C COG Metaphases, 1-19 No, (Bill Only) No
M25C COG Metaphases, 20-25 No, (Bill Only) No
MG25C COG 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 is only performed on specimens from pediatric patients who are candidates for enrollment in Children's Oncology Group (COG) clinical trials and research protocols.

 

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.

 

If this test is ordered and the laboratory is informed that the patient is not on a COG protocol, this test will be canceled and automatically reordered as CHRHB / Chromosome Analysis, Hematologic Disorders, Blood.

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

Cell Culture without Mitogens followed by Chromosome Analysis

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

COG-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

Children's Oncology Group

COG

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

This test is only performed on specimens from pediatric patients who are candidates for enrollment in Children's Oncology Group (COG) clinical trials and research protocols.

 

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.

 

If this test is ordered and the laboratory is informed that the patient is not on a COG protocol, this test will be canceled and automatically reordered as CHRHB / Chromosome Analysis, Hematologic Disorders, Blood.

Specimen Type
Describes the specimen type validated for testing

Whole blood

Ordering Guidance

This test is only performed on specimens from pediatric patients being considered for enrollment in a Children's Oncology Group (COG) protocol. For all other patients, order CHRHB / Chromosome Analysis, Hematologic Disorders, Blood.

 

For children in whom disease relapse or a secondary myeloid neoplasm is a concern and enrollment in a new COG protocol is being considered; order COGBM / Chromosome Analysis, Hematologic Disorders, Children's Oncology Group Enrollment Testing, Bone Marrow.

 

Consultation with personnel from the Genomics Laboratory is recommended when considering blood studies for hematologic disorders. Call 800-533-1710 and ask for the Cytogenetics Genetic Counselor on call.

Shipping Instructions

Advise Express Mail or equivalent if not on courier service.

Necessary Information

1. A reason for testing, a flow cytometry and/or a bone marrow pathology report, and a Children's Oncology Group (COG) registration number and protocol number should be submitted 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.

2. If a child has received an opposite sex bone marrow transplant prior to specimen collection for this protocol, note this information on the request.

ORDER QUESTIONS AND ANSWERS

Question ID Description Answers
GC024 Reason for Referral

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

Specimen Type: Blood

Container/Tube:

Preferred: Yellow top (ACD)

Acceptable: Green top (sodium heparin) or lavender top (EDTA)

Specimen Volume: 6 mL

Collection Instructions: Invert several times to mix blood.

Forms

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

Evaluation of pediatric blood specimens for chromosomal abnormalities associated with hematologic malignancies for diagnostic and prognostic purposes in patients being considered for enrollment in Children's Oncology Group clinical trials and research protocols

 

This test is not useful for congenital disorders.

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

This test is only performed on specimens from pediatric patients who are candidates for enrollment in Children's Oncology Group (COG) clinical trials and research protocols.

 

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.

 

If this test is ordered and the laboratory is informed that the patient is not on a COG protocol, this test will be canceled and automatically reordered as CHRHB / Chromosome Analysis, Hematologic Disorders, Blood.

Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

Clonal chromosomal abnormalities play a central role in the pathogenesis, diagnosis, and treatment monitoring of pediatric hematologic malignancies. 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.

 

Characteristic chromosome rearrangements and copy number patterns may help classify a pediatric hematologic malignancy. For example, t(1;19)(q23;p13.3) is typically observed in B-cell acute lymphoblastic leukemia/lymphoma and t(8;21)(q22;q22) defines a specific subset of patients with acute myeloid leukemia; while t(7;14)(q35;q11.2) is associated with T-lymphoblastic leukemia/lymphoma. Confirmation of classic gene fusions associated with the above translocations together with evaluation for other recurrent abnormalities are available within the appropriate Children's Oncology Group (COG) fluorescence in situ hybridization (FISH) panels; COGBF / B-Lymphoblastic Leukemia/Lymphoma, Children's Oncology Group Enrollment Testing, FISH, Varies; COGTF / T-Cell Acute Lymphoblastic Leukemia (T-ALL), Children's Oncology Group Enrollment Testing, FISH, Varies; and COGMF / Acute Myeloid Leukemia (AML), Children's Oncology Group Enrollment Testing, FISH, Varies. Some rearrangements identified by chromosomal analysis may be extremely rare but are known, recurrent entities for which the Mayo Clinic Genomics Laboratory has the most extensive catalogue of FISH testing to confirm the corollary gene fusions.

 

Metaphase FISH confirmation of classic translocations which are cryptic and not visually detectable by chromosome analysis [ie, t(12;21)] associated with ETV6/RUNX1 fusion) is performed as required by COG and is included as part of the electronic case submission by the Mayo Clinic Genomics Laboratory to COG for central review.

 

Additional cytogenetic techniques such as chromosomal microarray (CMAH / Chromosomal Microarray, Hematologic Disorders, Varies) may be helpful to resolve questions related to ploidy (hyperdiploid clone vs doubled hypodiploid clone) or to resolve certain clonal structural rearrangements such as the presence or absence of intrachromosomal amplification of chromosome 21 (iAMP21).

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

Interfering factors:

Technical:

-Cell lysis caused by forcing blood quickly through the needle at collection

-Use of an improper anticoagulant or improperly mixing the blood with the anticoagulant

-Clotted blood specimen

-Excessive transport time

-Exposure of the specimen to extreme temperature

 

Biological:

-Abnormalities missed due to sampling error

-Subtle structural chromosome abnormalities may not be detected by conventional chromosome analysis

-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: McClatchey KD, ed. Clinical Laboratory Medicine. 2nd ed. Williams and Wilkens; 2002: 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

3. Swerdlow SH, Campo E, Harris NL, et al, eds: WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues. IARC Press; 2017

4. Arber DA, Borowitz MJ, Cessna M, et al: Initial Diagnostic Workup of Acute Leukemia: Guideline from the College of American Pathologists and the American Society of Hematology. Arch Pathol Lab Med. 2017 Oct;141(10):1342-1393

Method Description
Describes how the test is performed and provides a method-specific reference

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

4 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
Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the order and results codes of this test. LOINC values are provided by the performing laboratory.

Test Id Test Order Name Order LOINC Value
COGBL COG-Chromosomes, Hematologic, Blood 62386-8
Result Id Test Result Name Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
602315 Result Summary 50397-9
602316 Interpretation 69965-2
602317 Result 62356-1
GC024 Reason for Referral 42349-1
602318 Specimen 31208-2
602319 Source 31208-2
602320 Method 85069-3
602321 Banding Method 62359-5
602322 Additional Information 48767-8
602323 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