Test Catalog

Test Id : TLBLF

T-Lymphoblastic Leukemia/Lymphoma, FISH, Tissue

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

Detecting a neoplastic clone associated with the common chromosome abnormalities seen in patients with T-cell lymphoblastic leukemia or lymphoma

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
_I300 Interphases, >=100 No No
_I099 Interphases, 25-99 No No
_IL25 Interphases, <25 No No
_PB03 Probe, +3 No No
_PB02 Probe, +2 No No
_PADD Probe, +1 No No
_PBCT Probe, +2 No No

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

This test may be ordered in 2 distinct ways allowing different combinations of probes to be utilized based on the clinical question, including the standard (diagnostic) TLBL FISH panel and the individual TLBL FISH probes (per client request).

 

The specific TLBL FISH panel or probes requested must be noted on the request form or in the reason for referral. If no specific panel or FISH probes are indicated, the standard (diagnostic) panel will be performed.

 

The standard (diagnostic) panel includes testing for the following abnormalities, using the FISH probes listed:

-1p33 rearrangements, TAL1/STIL(SIL)

-t(5;14)(q35;q32), TLX3(HOX11L2)/BCL11B

-7q34 rearrangements, TRB(TCR beta)

-9p-, CDKN2A(p16)/D9Z1

-t(9;22)(q34;q11.2), ABL1 amplification, ABL1(ABL)/BCR

-t(10;11)(p12;q14), MLLT10(AF10)/PICALM

-11q23 rearrangements, MLL

-14q11.2 rearrangements, TRAD (TCR alpha delta)

-17p-, TP53/D17Z1

 

When an MLL rearrangement is identified, reflex testing will be performed with 1 or more dual-fusion probe sets (D-FISH) in an attempt to identify the translocation partner. Probes include:

-t(4;11)(q21;q23), AFF1(AF4)/MLL

-t(6;11)(q27;q23), MLLT4(AF6)/MLL

-t(9;11)(p22;q23), MLLT3(AF9)/MLL

-t(10;11)(p12;q23), MLLT10(AF10)/MLL

-t(11;19)(q23;p13.1), MLL/ELL

-t(11;19)(q23;p13.3), MLL/MLLT1(ENL)

 

When an TRB(TCR beta) rearrangement is identified, reflex testing will be performed with a dual-fusion probe sets

(D-FISH) in an attempt to identify the translocation partner.

-t(7;10)(q34;q24), TRB(TCR beta)/TLX1(HOX11)

 

When an TRAD(TCR alpha delta) rearrangement is identified, reflex testing will be performed with a dual-fusion probe sets

(D-FISH) in an attempt to identify the translocation partner.

-t(10;14)(q24;q11.2), TLX1(HOX11)/TRAD(TCR alpha delta)

 

This test includes a charge for application of the first probe set (2 FISH probes) and professional interpretation of results. Additional charges will be incurred for all reflex probes performed. Analysis charges will be incurred based on the number of cells analyzed per probe set. If no cells are available for analysis, no analysis charges will be incurred.

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

Fluorescence In Situ Hybridization (FISH)

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

T-Lymphoblastic Leuk/Lymph, FISH,Ts

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

ABL amplification

ABL/BCR

ABL1 amplification

ABL1/BCR

AF10/PICALM

CDKN2A/Cen9

Deletion 1p32

Deletion 9p

HOX11L2/BCL11B

KMT2A

MLL

p16

p16/D9Z1

SIL/TAL1

t(10;11)(p13;q14) (MLLT10/PICALM)

t(10;11)(p13;q23) (AF10/MLL)

t(10;11)(p13;q23) (MLLT10/MLL)

t(10;14)(q24;q11.2) (HOX11/TCRAD)

t(10;14)(q24;q11.2) (TLX1/TRAD)

t(11;19)(q23;p13.1) (MLL/ELL)

t(11;19)(q23;p13.3) (MLL/ENL)

t(11;19)(q23;p13.3) (MLL/MLLT1)

t(11q23;var)

t(14q11.2;var)

t(4;11)(q21;q23) (AF4/MLL)

t(4;11)(q21;q23) (AFF1/MLL)

t(5;14)(q35;q32)

t(6;11)(q27;q23) (AF6/MLL)

t(6;11)(q27;q23) (MLLT4/MLL)

t(7;10)(q32;q24) TCRB/HOX11

t(7;10)(q32;q24) TRB/TLX1

t(7q34;var)

t(9;11)(p22;q23) (AF9/MLL)

t(9;11)(p22;q23) (MLLT3/MLL)

t(9;22)(q34;q11.2)

TAL1/STIL

T-cell receptor alpha/delta

T-cell receptor beta

TCRAD

TCRalpha/delta

TCRB

TCRbeta

TLX3/BCL11B

TP53

TRB

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

This test may be ordered in 2 distinct ways allowing different combinations of probes to be utilized based on the clinical question, including the standard (diagnostic) TLBL FISH panel and the individual TLBL FISH probes (per client request).

 

The specific TLBL FISH panel or probes requested must be noted on the request form or in the reason for referral. If no specific panel or FISH probes are indicated, the standard (diagnostic) panel will be performed.

 

The standard (diagnostic) panel includes testing for the following abnormalities, using the FISH probes listed:

-1p33 rearrangements, TAL1/STIL(SIL)

-t(5;14)(q35;q32), TLX3(HOX11L2)/BCL11B

-7q34 rearrangements, TRB(TCR beta)

-9p-, CDKN2A(p16)/D9Z1

-t(9;22)(q34;q11.2), ABL1 amplification, ABL1(ABL)/BCR

-t(10;11)(p12;q14), MLLT10(AF10)/PICALM

-11q23 rearrangements, MLL

-14q11.2 rearrangements, TRAD (TCR alpha delta)

-17p-, TP53/D17Z1

 

When an MLL rearrangement is identified, reflex testing will be performed with 1 or more dual-fusion probe sets (D-FISH) in an attempt to identify the translocation partner. Probes include:

-t(4;11)(q21;q23), AFF1(AF4)/MLL

-t(6;11)(q27;q23), MLLT4(AF6)/MLL

-t(9;11)(p22;q23), MLLT3(AF9)/MLL

-t(10;11)(p12;q23), MLLT10(AF10)/MLL

-t(11;19)(q23;p13.1), MLL/ELL

-t(11;19)(q23;p13.3), MLL/MLLT1(ENL)

 

When an TRB(TCR beta) rearrangement is identified, reflex testing will be performed with a dual-fusion probe sets

(D-FISH) in an attempt to identify the translocation partner.

-t(7;10)(q34;q24), TRB(TCR beta)/TLX1(HOX11)

 

When an TRAD(TCR alpha delta) rearrangement is identified, reflex testing will be performed with a dual-fusion probe sets

(D-FISH) in an attempt to identify the translocation partner.

-t(10;14)(q24;q11.2), TLX1(HOX11)/TRAD(TCR alpha delta)

 

This test includes a charge for application of the first probe set (2 FISH probes) and professional interpretation of results. Additional charges will be incurred for all reflex probes performed. Analysis charges will be incurred based on the number of cells analyzed per probe set. If no cells are available for analysis, no analysis charges will be incurred.

Specimen Type
Describes the specimen type validated for testing

Tissue

Shipping Instructions

Advise Express Mail or equivalent if not on courier service.

Necessary Information

A reason for referral and pathology report are required in order for testing to be performed. Send information with specimen. Acceptable pathology reports include working drafts, preliminary pathology or surgical pathology reports.

ORDER QUESTIONS AND ANSWERS

Question ID Description Answers
GC005 Reason for Referral

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:

 

Specimen Type: Tissue

Container/Tube: Formalin-fixed, paraffin-embedded tumor tissue block

 

Specimen Type: Slides

Specimen Volume: 19 Consecutive, unstained, 5 micron-thick sections placed on positively charged slides and 1 hematoxylin and eosin-stained slide

Forms

If not ordering electronically, complete, print, and send 1 of the following forms with the specimen:

-Hematopathology/Cytogenetics Test Request (T726)

-Children's Oncology Group Test Request (T829)

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

Formalin-fixed paraffin-embedded tissue block or for each probe set ordered, 9 unstained consecutive tissue sections cut at 5 microns and placed on positively charged microscope slides. Include 1 hematoxylin and eosin (H and E) stained slide.

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
Tissue Ambient (preferred)
Refrigerated

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

Detecting a neoplastic clone associated with the common chromosome abnormalities seen in patients with T-cell lymphoblastic leukemia or lymphoma

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

This test may be ordered in 2 distinct ways allowing different combinations of probes to be utilized based on the clinical question, including the standard (diagnostic) TLBL FISH panel and the individual TLBL FISH probes (per client request).

 

The specific TLBL FISH panel or probes requested must be noted on the request form or in the reason for referral. If no specific panel or FISH probes are indicated, the standard (diagnostic) panel will be performed.

 

The standard (diagnostic) panel includes testing for the following abnormalities, using the FISH probes listed:

-1p33 rearrangements, TAL1/STIL(SIL)

-t(5;14)(q35;q32), TLX3(HOX11L2)/BCL11B

-7q34 rearrangements, TRB(TCR beta)

-9p-, CDKN2A(p16)/D9Z1

-t(9;22)(q34;q11.2), ABL1 amplification, ABL1(ABL)/BCR

-t(10;11)(p12;q14), MLLT10(AF10)/PICALM

-11q23 rearrangements, MLL

-14q11.2 rearrangements, TRAD (TCR alpha delta)

-17p-, TP53/D17Z1

 

When an MLL rearrangement is identified, reflex testing will be performed with 1 or more dual-fusion probe sets (D-FISH) in an attempt to identify the translocation partner. Probes include:

-t(4;11)(q21;q23), AFF1(AF4)/MLL

-t(6;11)(q27;q23), MLLT4(AF6)/MLL

-t(9;11)(p22;q23), MLLT3(AF9)/MLL

-t(10;11)(p12;q23), MLLT10(AF10)/MLL

-t(11;19)(q23;p13.1), MLL/ELL

-t(11;19)(q23;p13.3), MLL/MLLT1(ENL)

 

When an TRB(TCR beta) rearrangement is identified, reflex testing will be performed with a dual-fusion probe sets

(D-FISH) in an attempt to identify the translocation partner.

-t(7;10)(q34;q24), TRB(TCR beta)/TLX1(HOX11)

 

When an TRAD(TCR alpha delta) rearrangement is identified, reflex testing will be performed with a dual-fusion probe sets

(D-FISH) in an attempt to identify the translocation partner.

-t(10;14)(q24;q11.2), TLX1(HOX11)/TRAD(TCR alpha delta)

 

This test includes a charge for application of the first probe set (2 FISH probes) and professional interpretation of results. Additional charges will be incurred for all reflex probes performed. Analysis charges will be incurred based on the number of cells analyzed per probe set. If no cells are available for analysis, no analysis charges will be incurred.

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

T-lymphoblastic lymphoma (T-LBL) is the non-leukemic form of T-acute lymphoblastic leukemia (T-ALL). In the United States, the incidence of ALL is roughly 6,000 new cases per year (as of 2009), or approximately 1 in 50,000. ALL accounts for approximately 70 percent of all childhood leukemia cases (ages 0 to 19 years), making it the most common type of childhood cancer. Approximately 85% of pediatric ALL cases are B-cell lineage (B-ALL) and 15% are T-cell lineage (T-ALL). T-ALL is more common in adolescents than younger children and accounts for 25% of adult ALL. When occurring as a primary lymphoblastic lymphoma, approximately 90% are T-cell lineage versus only 10% B-cell lineage. T-LBL characteristically presents in adolescents and young adults as a mediastinal mass with or without concurrent bone marrow involvement. It is not uncommon that the only sample available with T-LBL involvement is a paraffin-embedded mediastinal or lymph node biopsy specimen.

 

Specific genetic abnormalities can be identified in the majority of T-ALL/LBL cases, although many of the classic abnormalities are “cryptic” by conventional chromosome studies and must be identified by fluorescence in situ hybridization (FISH) studies. Each of the genetic subgroups are important to detect and can be critical prognostic markers. One predictive marker, amplification of the ABL1 gene region, has been identified in 5% of T-ALL, and these patients may be responsive to targeted tyrosine kinase inhibitors. A combination of cytogenetic and FISH testing is currently recommended in all pediatric and adult patients to characterize the T-ALL/LBL clone for prognostic genetic subgroups.

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 positive result is detected when the percent of cells with an abnormality exceeds the normal cutoff for the probe set.

 

A positive result is not diagnostic for T-lymphoblastic lymphoma (T-LBL), but may provide relevant prognostic information.

 

The absence of an abnormal clone does not rule out the presence of 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.

 

Fixatives other than formalin (eg, Prefer, Bouin) may not be successful for FISH assays. Although FISH testing will not be rejected due to nonformalin fixation, results may be compromised.

 

Paraffin-embedded tissues that have been decalcified are generally unsuccessful for FISH analysis. The pathologist reviewing the hematoxylin and eosin-stained slide may find it necessary to cancel testing.

Supportive Data

For each probe set, blinded FISH analysis was performed on 25 normal paraffin-embedded, formalin-fixed tissue controls and 32 to 36 paraffin-embedded, formalin-fixed tissue samples from patients diagnosed with T-cell lymphoblastic leukemia or lymphoma. Results from the 25 controls were used to generate the normal cutoff values.

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

1. Graux C, Cools J, Michaux L, et al: Cytogenetics and molecular genetics of T-cell acute lymphoblastic leukemia: from thymocyte to lymphoblast. Leukemia 2006;20:1496-1510

2. Swerdlow SH, Campo E, Stefano PA, et al: The 2016 revision of the World Health Organization classification of lymphoid neoplasms. Blood 2016;127(20):2375-2390

3. van Grotel M, Meijerink JP, Beverloo HB, et al: The outcome of molecular-cytogenetic subgroups in pediatric T-cell acute lymphoblastic leukemia: a retrospective study of patients treated according to DCOG or COALL protocols. Haematologica 2006;91:1212-1221

4. World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues. Edited by SH Swerdlow, E Campo, NL Harris, et al. Lyon, IARC Press, 2017

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

This test uses FISH enumeration strategy probes to detect deletions of CDKN2A(p16) on chromosome 9p and TP53 on chromosome 17p. Dual-color, break-apart (BAP) probes are used to detect rearrangements of the TAL1/STIL(SIL), TRB(TCR beta), MLL, and TRAD(TCR alpha delta) locus on 1p33, 7q34, 11q23, and 14q11.2, respectively. Dual-color, dual-fusion strategy (D-FISH) probe sets are used to detect fusions of the TLX3(HOX11L2)/BCL11B, ABL1(ABL)/BCR, and MLLT10(AF10)/PICALM  locus on (5;14)(q35;q32), (9;22)(q34;q11.2), and (10;11)(p12;q14) respectively. D-FISH probe sets are also used in reflext testing when rearrangements of MLL, TRAD(TCR alpha delta) and TRB(TCR beta) gene loci are detected. Amplification of the ABL1 gene is detected using a D-FISH probe strategy. Paraffin-embedded tissues are cut at 5 microns and mounted on positively charged glass slides. The selection of tissue and the identification of target areas on the hematoxylin and eosin- (H and E) stained slide are performed by a pathologist. Using the H and E-stained slide as a reference, target areas are etched with a diamond-tipped etcher on the back of the unstained slide to be assayed. For each probe set, the probes are hybridized to the appropriate target areas and 2 technologists each analyze 50 interphase nuclei (100 total) per probe set with the results 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

Slides and H&E used for analysis are retained by the laboratory in accordance to CAP and NYS requirements. Client provided paraffin blocks and extra unstained slides (if provided) will be returned after testing is complete.

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 using an analyte specific reagent. Its performance characteristics were 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.

88271 x 2, 88291-DNA probe, each (first probe set), Interpretation and report

88271 x 2-DNA probe, each; each additional probe set (if appropriate)

88271-DNA probe, each; coverage for sets containing 3 probes (if appropriate)

88271 x 2-DNA probe, each; coverage for sets containing 4 probes (if appropriate)

88271 x 3-DNA probe, each; coverage for sets containing 5 probes (if appropriate)

88274 w/modifier 52-Interphase in situ hybridization, <25 cells, each probe set (if appropriate)

88274-Interphase in situ hybridization, 25 to 99 cells, each probe set (if appropriate)

88275-Interphase in situ hybridization, 100 to 300 cells, each 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
TLBLF T-Lymphoblastic Leuk/Lymph, FISH,Ts In Process
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.
113467 Result Summary 50397-9
113468 Interpretation 69965-2
113626 Result Table 93356-4
113469 Result 62356-1
GC005 Reason for Referral 42349-1
113470 Specimen 31208-2
113471 Source 31208-2
113472 Tissue ID 80398-1
113473 Method 85069-3
113474 Additional Information 48767-8
113475 Disclaimer 62364-5
113476 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