Test Catalog

Test Id : TALPF

T-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), FISH, Pediatric, Varies

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

Detecting a neoplastic clone associated with the common chromosome abnormalities and classic rearrangements seen in pediatric/young adult patients with T-cell acute lymphoblastic leukemia (T-ALL)

 

An adjunct to conventional chromosome studies in patients with T-ALL

 

Evaluating specimens in which standard cytogenetic analysis is 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
TALPB Probe, Each Additional (TALPF) 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 9 probe sets (18 individual fluorescence in situ hybridization [FISH] probes). Additional charges will be incurred for all reflex or additional probe sets performed.

 

 

The diagnostic pediatric/young adult T-ALL FISH panel includes testing for the following abnormalities using the FISH probes listed:

+9/9p-, CDKN2A/D9Z1

t(9;22) or ABL1 amplification, ABL1/BCR

11q23 rearrangement, MLL (KMT2A) break-apart

-17/17p-, TP53/D17Z1

t(5;14), TLX3/BCL11B

7q34 rearrangement, TRB break-apart

14q11.2 rearrangement, TRAD break-apart

t(10;11), MLLT10/PICALM

1p33 rearrangement, TAL1/STIL

 

When an MLL (KMT2A) rearrangement is identified, reflex testing will be performed to identify the translocation partner. Probes include identification of:

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

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

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

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

t(10;11)(p12;q23) MLLT10/MLL

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

 

When a TRAD rearrangement is identified, reflex testing will be performed to identify the translocation partner. Probes include identification of:

t(11;14)(p15;q11.2) LMO1/TRAD

t(8;14)(q24.1;q11.2) MYC/TRAD

t(10;14)(q24;q11.2) TLX1(HOX11)/TRAD

t(11;14)(p13;q11.2) LMO2/TRAD.

 

When a TRB rearrangement is identified, reflex testing will be performed to identify the translocation partner. Probes include identification of:

t(7;10)(q34;q24) TRB/TLX1

t(7;11)(q34;p15) TRB/LMO1

t(7;11)(q34;p13) TRB/LMO2

t(6;7)(q23;q34) MYB/TRB.

 

In the absence of BCR/ABL1 fusion or apparent episomal amplification of ABL1, when an extra ABL1 signal is identified, reflex testing will be performed using the ABL1 break-apart probe set to evaluate for the presence or absence of an ABL1 rearrangement.

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

Pediatric ALL (T-cell), FISH

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

9p- (9p deletion) or CDKN2A or p16

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

MLL or KMT2A (11q23) rearrangement

t(4;11)(q21;q23) - AFF1/MLL or AFF4/MLL

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

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

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

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

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

17p- (17p deletion) or TP53

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

T-cell receptor beta (TRB) (7q34) rearrangement

T-cell receptor alpha/delta (TRAD) (14q11.2) rearrangement

t(10;11)(p13;q14) - MLLT10/PICALM or AF10/PICALM

TAL1/STIL (1p33) rearrangement or TAL/SIL

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 9 probe sets (18 individual fluorescence in situ hybridization [FISH] probes). Additional charges will be incurred for all reflex or additional probe sets performed.

 

 

The diagnostic pediatric/young adult T-ALL FISH panel includes testing for the following abnormalities using the FISH probes listed:

+9/9p-, CDKN2A/D9Z1

t(9;22) or ABL1 amplification, ABL1/BCR

11q23 rearrangement, MLL (KMT2A) break-apart

-17/17p-, TP53/D17Z1

t(5;14), TLX3/BCL11B

7q34 rearrangement, TRB break-apart

14q11.2 rearrangement, TRAD break-apart

t(10;11), MLLT10/PICALM

1p33 rearrangement, TAL1/STIL

 

When an MLL (KMT2A) rearrangement is identified, reflex testing will be performed to identify the translocation partner. Probes include identification of:

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

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

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

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

t(10;11)(p12;q23) MLLT10/MLL

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

 

When a TRAD rearrangement is identified, reflex testing will be performed to identify the translocation partner. Probes include identification of:

t(11;14)(p15;q11.2) LMO1/TRAD

t(8;14)(q24.1;q11.2) MYC/TRAD

t(10;14)(q24;q11.2) TLX1(HOX11)/TRAD

t(11;14)(p13;q11.2) LMO2/TRAD.

 

When a TRB rearrangement is identified, reflex testing will be performed to identify the translocation partner. Probes include identification of:

t(7;10)(q34;q24) TRB/TLX1

t(7;11)(q34;p15) TRB/LMO1

t(7;11)(q34;p13) TRB/LMO2

t(6;7)(q23;q34) MYB/TRB.

 

In the absence of BCR/ABL1 fusion or apparent episomal amplification of ABL1, when an extra ABL1 signal is identified, reflex testing will be performed using the ABL1 break-apart probe set to evaluate for the presence or absence of an ABL1 rearrangement.

Specimen Type
Describes the specimen type validated for testing

Varies

Ordering Guidance

This test is only performed on specimens from patients with T-cell acute lymphoblastic leukemia (T-ALL) who are 30 years of age or younger.

This test is intended for instances when the entire T-ALL fluorescence in situ hybridization (FISH) panel is needed for a pediatric patient.

-If this test is ordered on a patient older than 30 years, this test will be canceled and automatically reordered by the laboratory as TALAF/ T-Cell Acute Lymphoblastic Leukemia/Lymphoma, FISH, Adult, Varies.

-If this test is ordered and the laboratory is informed that the patient is on a Children's Oncology Group (COG) protocol, this test will be canceled and automatically reordered by the laboratory as COGTF / T-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), Children's Oncology Group Enrollment Testing, FISH, Varies.

 

If limited T-cell ALL FISH probes are preferred, order TALMF / T-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), Specified FISH, Varies.

 

At follow-up, conventional cytogenetic studies (CHRBM / Chromosome Analysis, Hematologic Disorders, Bone Marrow) and targeted T-ALL FISH probes can be evaluated based on the abnormalities identified in the diagnostic study. Order TALMF / T-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), Specified FISH, Varies and request specific probes or abnormalities.

 

If the patient clinically relapses, a conventional chromosome study is useful to identify cytogenetic changes in the neoplastic clone or the possible emergence of a new therapy-related myeloid clone.

 

For patients with T-cell lymphoma, order TLPDF / T-Cell Lymphoma, Diagnostic FISH, Varies.

 

For testing paraffin-embedded tissue samples from patients with T-cell lymphoblastic lymphoma, order TLBLF / T-Cell Lymphoblastic Leukemia/Lymphoma, FISH, Tissue.

Additional Testing Requirements

At diagnosis, conventional cytogenetic studies (CHRBM / Chromosome Analysis, Hematologic Disorders, Bone Marrow) and this FISH panel should be performed. If there is limited specimen available, only this FISH test will be performed.

Shipping Instructions

Advise Express Mail or equivalent if not on courier service.

Necessary Information

1. A reason for testing and a flow cytometry and/or a bone marrow pathology report 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. If this information is not provided, an appropriate indication for testing may be entered by Mayo Clinic Laboratories.

 2. If the patient has received an opposite sex bone marrow transplant, note this information on the request.

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: 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.

 

Acceptable

Specimen Type: Blood

Container/Tube:

Preferred: Yellow top (ACD)

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

Specimen Volume: 6 mL

Collection Instructions: Invert several times to mix blood.

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

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 a neoplastic clone associated with the common chromosome abnormalities and classic rearrangements seen in pediatric/young adult patients with T-cell acute lymphoblastic leukemia (T-ALL)

 

An adjunct to conventional chromosome studies in patients with T-ALL

 

Evaluating specimens in which standard cytogenetic analysis is 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 9 probe sets (18 individual fluorescence in situ hybridization [FISH] probes). Additional charges will be incurred for all reflex or additional probe sets performed.

 

 

The diagnostic pediatric/young adult T-ALL FISH panel includes testing for the following abnormalities using the FISH probes listed:

+9/9p-, CDKN2A/D9Z1

t(9;22) or ABL1 amplification, ABL1/BCR

11q23 rearrangement, MLL (KMT2A) break-apart

-17/17p-, TP53/D17Z1

t(5;14), TLX3/BCL11B

7q34 rearrangement, TRB break-apart

14q11.2 rearrangement, TRAD break-apart

t(10;11), MLLT10/PICALM

1p33 rearrangement, TAL1/STIL

 

When an MLL (KMT2A) rearrangement is identified, reflex testing will be performed to identify the translocation partner. Probes include identification of:

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

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

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

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

t(10;11)(p12;q23) MLLT10/MLL

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

 

When a TRAD rearrangement is identified, reflex testing will be performed to identify the translocation partner. Probes include identification of:

t(11;14)(p15;q11.2) LMO1/TRAD

t(8;14)(q24.1;q11.2) MYC/TRAD

t(10;14)(q24;q11.2) TLX1(HOX11)/TRAD

t(11;14)(p13;q11.2) LMO2/TRAD.

 

When a TRB rearrangement is identified, reflex testing will be performed to identify the translocation partner. Probes include identification of:

t(7;10)(q34;q24) TRB/TLX1

t(7;11)(q34;p15) TRB/LMO1

t(7;11)(q34;p13) TRB/LMO2

t(6;7)(q23;q34) MYB/TRB.

 

In the absence of BCR/ABL1 fusion or apparent episomal amplification of ABL1, when an extra ABL1 signal is identified, reflex testing will be performed using the ABL1 break-apart probe set to evaluate for the presence or absence of an ABL1 rearrangement.

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

In the United States, the incidence of acute lymphoblastic leukemia (ALL) is roughly 6000 new cases per year (as of 2019). ALL accounts for approximately 70% of all childhood leukemia cases (ages 0 to 19 years), making it the most common type of childhood cancer.

 

Approximately 85% of pediatric cases of ALL are of B-cell lineage (B-ALL) and 15% are of 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 (LBL), approximately 90% are T-cell lineage versus only 10% B-cell lineage. T-LBL often present as a mediastinal mass in younger patients with or without concurrent bone marrow involvement.

 

Specific genetic abnormalities are identified in the majority of cases of T-ALL, 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 clone for the prognostic genetic subgroups. A summary of the characteristic chromosome abnormalities identified in T-ALL are listed in the following table.

 

Table. Common Chromosome Abnormalities in T-cell Acute Lymphoblastic Leukemia

Cytogenetic change

Genes involved

del(1p33)

TAL1/STIL

t(5;14)(q35;q32)

TLX3/BCL11B

t(10;11)(p12;q14)

MLLT10/PICALM

Episomal amplification

ABL1

del(9p)

CDKN2A(p16)

t(11q23;var)

MLL(KMT2A)

t(4;11)(q21;q23)

AFF1/MLL(KMT2A)

t(6;11)(q27;q23)

MLLT4(AFDN)/MLL(KMT2A)

t(9;11)(p22;q23)

MLLT3/MLL(KMT2A)

t(10;11)(p12;q23)

MLLT10/MLL(KMT2A)

t(11;19)(q23;p13.1)

MLL(KMT2A)/ELL

t(11;19)(q23;p13.3)

MLL(KMT2A)/MLLT1

t(7q34;var)

TRB

t(6;7)(q23;q34)

MYB/TRB

t(7;10)(q34;q24)

TRB/TLX1

t(7;11)(q34;p15)

TRB/LMO1

t(7;11)(q34;p13)

TRB/LMO2

t(14q11.2;var)

TRAD

t(8;14)(q24.1;q11.2)

MYC/TRAD

t(10;14)(q24;q11.2)

TLX1/TRAD

t(11;14)(p15;q11.2)

LMO1/TRAD

t(11;14)(p13;q11.2)

LMO2/TRAD

del(17p)

TP53

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.

 

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.

 

Fluorescence in situ hybridization (FISH) is not a substitute for conventional chromosome studies because the latter detects many chromosome abnormalities associated with other hematological disorders that would be missed by this FISH panel test.

 

Bone marrow is the preferred specimen type for this FISH test. If bone marrow is not available, a blood specimen may be used if there are malignant cells in the blood specimen (as verified by a hematopathologist).

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 25 normal specimens. Each probe set was evaluated 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. Swerdlow SH, Campo E, Harris NL, et al, eds: WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues. IARC Press; 2017

2. Gesk S, Martin-Subero JI, Harder L, et al: Molecular cytogenetic detection of chromosomal breakpoints in T-cell receptor gene loci. Leukemia. 2003;17:738-745

3. Chin M, Mugishima H, Takamura M, et al: Hemophagocytic syndrome and hepatosplenic (gamma)(delta) T-cell lymphoma with isochromosome 7q and 8 trisomy. J Pediatr Hematol Oncol. 2004;26(6):375-378

4. 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

5. Liu Y, Easton J, Shao Y, et al: The genomic landscape of pediatric and young adult T-lineage acute lymphoblastic leukemia. Nat Genet. 2017;49(8):1211-1218

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 the CDKN2A locus on chromosome 9 and TP53 on chromosome 17 are detected using enumeration strategy probes. Rearrangements involving TAL1/STIL, TRB, MLL (KMT2A), and TRAD are detected using dual-color break-apart (BAP) strategy probes. Dual-color, dual-fusion fluorescence in situ hybridization (D-FISH) strategy probe sets are used to detect t(5;14), t(9;22), t(10;11), and in reflex testing when rearrangements of MLL, TRB, or TRAD genes are detected. Amplification of the ABL1 (9q34) is detected using a D-FISH probe strategy. For enumeration and BAP 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 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.

88271x18, 88275x9, 88291x1- FISH Probe, Analysis, Interpretation; 9 probe sets

88271x2, 88275x1-FISH Probe, Analysis; each additional probe set (if appropriate)

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