Test Catalog

Test Id : CLLDF

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Chronic Lymphocytic Leukemia, Diagnostic FISH, Varies

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Overview

Test Catalog

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

Detecting recurrent common chromosome abnormalities in patients with chronic lymphocytic leukemia (CLL)

 

Distinguishing patients with 11;14 translocations who have the leukemic phase of mantle cell lymphoma from patients who have CLL

 

Detecting patients with atypical CLL with translocations between IGH and BCL3

 

Evaluating specimens in which chromosome studies are unsuccessful

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
CLLDB Probe, Each Additional (CLLDF) 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 the probe application, analysis, and professional interpretation of results for 6 probe sets (12 individual fluorescence in situ hybridization [FISH] probes). Additional charges will be incurred for all reflex or additional probe sets performed.

 

This test is performed as panel testing only and will be performed using the following analysis algorithm. Modifications of the FISH probes or chronic lymphocytic leukemia (CLL) algorithm are not allowed for this test.

 

The panel includes testing for the following abnormalities using the probes listed:

6q-, D6Z1/MYB

11q-, D11Z1/ATM

+12, D12Z3/MDM2

13q-, D13S319/LAMP1

17p-, TP53/D17Z1

t(11;14), CCND1/IGH

 

Appropriate ancillary probes may be performed at consultant discretion to render comprehensive assessment. Any additional probes will have the results included within the final report and will be performed at an additional charge.

 

In the absence of CCND1::IGH fusion, when an extra IGH signal is identified, additional testing using the IGH/BCL3 probe set will be considered at the laboratory's discretion to identify a potential IGH::BCL3 fusion [t(14;19)(q32;q13)]. Laboratory discretion may be influenced by available karyotype results and previous CLL FISH testing.

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

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

CLL, Diagnostic FISH

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

This test includes a charge for the probe application, analysis, and professional interpretation of results for 6 probe sets (12 individual fluorescence in situ hybridization [FISH] probes). Additional charges will be incurred for all reflex or additional probe sets performed.

 

This test is performed as panel testing only and will be performed using the following analysis algorithm. Modifications of the FISH probes or chronic lymphocytic leukemia (CLL) algorithm are not allowed for this test.

 

The panel includes testing for the following abnormalities using the probes listed:

6q-, D6Z1/MYB

11q-, D11Z1/ATM

+12, D12Z3/MDM2

13q-, D13S319/LAMP1

17p-, TP53/D17Z1

t(11;14), CCND1/IGH

 

Appropriate ancillary probes may be performed at consultant discretion to render comprehensive assessment. Any additional probes will have the results included within the final report and will be performed at an additional charge.

 

In the absence of CCND1::IGH fusion, when an extra IGH signal is identified, additional testing using the IGH/BCL3 probe set will be considered at the laboratory's discretion to identify a potential IGH::BCL3 fusion [t(14;19)(q32;q13)]. Laboratory discretion may be influenced by available karyotype results and previous CLL FISH testing.

Specimen Type
Describes the specimen type validated for testing

Varies

Ordering Guidance

This test is intended for instances when the entire chronic lymphocytic leukemia (CLL) fluorescence in situ hybridization (FISH) panel is needed.

If a paraffin-embedded tissue sample is received, this test will be canceled and automatically reordered by the laboratory as SLL / Small Lymphocytic Lymphoma, FISH, Tissue.

Shipping Instructions

Advise Express Mail or equivalent if not on courier service.

Necessary Information

A reason for testing and a flow cytometry and/or a bone marrow pathology report are requested with each specimen. The laboratory will not reject testing if this information is not provided; however, appropriate testing and/or interpretation may be compromised or delayed in some instances. If not provided, an appropriate indication for testing may be entered by Mayo Clinic Laboratories.

ORDER QUESTIONS AND ANSWERS

Question ID Description Answers
GC088 Reason for Referral
GC089 Specimen Whole Blood ACD
Bone Marrow ACD
Whole Blood Na Hep
Bone Marrow Na Hep
Whole Blood EDTA
Bone Marrow EDTA

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

Submit only 1 of the following specimens:

 

Preferred:

Specimen Type: Blood

Container/Tube:

Preferred: Yellow top (ACD)

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

Specimen Volume: 6 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send whole blood in original tube. Do not aliquot.

 

Acceptable:

Specimen Type: Bone marrow

Container/Tube:

Preferred: Yellow top (ACD)

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

Specimen Volume: 2 to 3 mL

Collection Instructions:

1. It is preferable to send the first aspirate from the bone marrow collection.

2. Invert several times to mix bone marrow.

3. Send bone marrow in original tube. Do not aliquot.

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. The minimum volume is sufficient for one attempt at testing.

Blood: 2 mL; Bone marrow: 1 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
Varies Ambient (preferred)
Refrigerated

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

Detecting recurrent common chromosome abnormalities in patients with chronic lymphocytic leukemia (CLL)

 

Distinguishing patients with 11;14 translocations who have the leukemic phase of mantle cell lymphoma from patients who have CLL

 

Detecting patients with atypical CLL with translocations between IGH and BCL3

 

Evaluating specimens in which chromosome studies are unsuccessful

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

This test includes a charge for the probe application, analysis, and professional interpretation of results for 6 probe sets (12 individual fluorescence in situ hybridization [FISH] probes). Additional charges will be incurred for all reflex or additional probe sets performed.

 

This test is performed as panel testing only and will be performed using the following analysis algorithm. Modifications of the FISH probes or chronic lymphocytic leukemia (CLL) algorithm are not allowed for this test.

 

The panel includes testing for the following abnormalities using the probes listed:

6q-, D6Z1/MYB

11q-, D11Z1/ATM

+12, D12Z3/MDM2

13q-, D13S319/LAMP1

17p-, TP53/D17Z1

t(11;14), CCND1/IGH

 

Appropriate ancillary probes may be performed at consultant discretion to render comprehensive assessment. Any additional probes will have the results included within the final report and will be performed at an additional charge.

 

In the absence of CCND1::IGH fusion, when an extra IGH signal is identified, additional testing using the IGH/BCL3 probe set will be considered at the laboratory's discretion to identify a potential IGH::BCL3 fusion [t(14;19)(q32;q13)]. Laboratory discretion may be influenced by available karyotype results and previous CLL FISH testing.

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

Chronic lymphocytic leukemia (CLL) is one of the most common leukemias in adults. The most frequently seen cytogenetic abnormalities in CLL involve chromosomes 6, 11, 12, 13 and 17. These are detected and quantified using the CLL fluorescence in situ hybridization (FISH) panel.

 

Use of CpG-oligonucleotide mitogen will identify an abnormal CLL karyotype in at least 80% of cases. This mitogen is added to cultures when chromosome analysis is ordered and the reason for testing is B-cell lymphoproliferative disorders (CHRBM / Chromosome Analysis, Hematologic Disorders, Bone Marrow and CHRHB / Chromosome Analysis, Hematologic Disorders, Blood).

 

This FISH test detects an abnormal clone in approximately 70% of patients with indolent disease and in greater than 80% of patients who require treatment. At least 5% of patients referred for CLL FISH testing have translocations involving the IGH locus. Fusion of IGH with CCND1 is associated with t(11;14)(q13;q32), and fusion of IGH with BCL3 is associated with t(14;19)(q32;q13.3). Patients with t(11;14) usually have the leukemic phase of mantle cell lymphoma. Patients with t(14;19) may have an atypical form of B-CLL or the leukemic phase of a lymphoma. 

The prognostic associations for chromosome abnormalities detected by this FISH assay are, from best to worst: 13q-, normal, +12, 6q-, 11q- and 17p-.

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 interpretive report will be provided.

Interpretation
Provides information to assist in interpretation of the test results

A neoplastic clone is detected when the percent of cells with an abnormality exceeds the normal reference range for any given probe set.

The absence of an abnormal clone does not rule out the presence of a CLL clone or another neoplastic disorder.

Cautions
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

This test is not approved by the US Food and Drug Administration, and it is best used as an adjunct to existing clinical and pathologic information.

Supportive Data

Each probe was independently tested and verified on unstimulated peripheral blood and bone marrow specimens. Normal cutoffs were calculated based on the results of at least 25 normal specimens. In addition, each probe set was evaluated in a blinded fashion to confirm the probe set detected the abnormality it was designed to detect.

Clinical Reference
Recommendations for in-depth reading of a clinical nature

1. Dewald GW, Brockman SR, Paternoster SF, et al: Chromosome anomalies detected by interphase FISH: correlation with significant biological features of B-cell chronic lymphocytic leukemia. Br J Haematol. 2003;121:287-295

2. Dohner H, Stilgenbauer S, Benner A, et al. Genomic aberrations and survival in chronic lymphocytic leukemia. N Engl J Med. 2000;343(26):1910-1916

3. Van Dyke DL, Shanafelt TD, Call TG, et al. A comprehensive evaluation of the prognostic significance of 13q deletions in patients with B-chronic lymphocytic leukaemia. Br J Haematol. 2010;148:544-550

4. Shanafelt TD: Predicting clinical outcome in CLL: how and why. Hematology Am Soc Hematol Educ Program. 2009;421-429

5. Van Dyke DL, Werner L, Rassenti LZ, et al. The Dohner fluorescence in situ hybridization prognostic classification of chronic lymphocytic leukaemia (CLL): the CLL Research Consortium experience. Br J Haematol. 2016;173(1):105-113

6. Fang H, Reichard KK, Rabe KG, et al. IGH translocations in chronic lymphocytic leukemia: Clinicopathologic features and clinical outcomes. Am J Hematol. 2019;94(3):338-345

7. Huh YO, Schweighofer CD, Ketterling RP, et al. Chronic lymphocytic leukemia with t(14;19)(q32;q13) is characterized by atypical morphologic and immunophenotypic features and distinctive genetic features. Am J Clin Pathol. 2011;135(5):686-696

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

This test is performed using commercially available and laboratory-developed probes. Deletion of chromosomes 6q, 11q, 13q and 17p, and trisomy of chromosome 12 are detected using enumeration strategy probes. A dual-color, dual-fusion fluorescence in situ hybridization (D-FISH) strategy probe set is used to detect CCND1::IGH rearrangements and for reflex testing to identify IGH::BCL3 rearrangements. For enumeration strategy probe sets, 100 interphase nuclei are scored; 200 interphase nuclei are scored when D-FISH probes are used. All results are expressed as the percent abnormal nuclei.(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.

7 to 10 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 account representative. 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. It 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.

88271x12, 88275x6, 88291-FISH Probe, Analysis, Interpretation; 6 probe sets

88271x2, 88275-FISH Probe, Analysis; each additional probe set (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
CLLDF CLL, Diagnostic FISH 101788-8
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.
610714 Result Summary 50397-9
610715 Interpretation 69965-2
610716 Result Table 93356-4
610717 Result 62356-1
GC088 Reason for Referral 42349-1
GC089 Specimen 31208-2
610718 Source 31208-2
610719 Method 85069-3
610720 Additional Information 48767-8
610721 Disclaimer 62364-5
610722 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