Test Catalog

Test Id : CILDF

Congenital Infantile Leukemia, Diagnostic FISH, Varies

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

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
CILDB Probe, Each Additional (CILDF) 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 4 probe sets (8 individual fluorescence in situ hybridization [FISH] probes). Additional charges will be incurred for all reflex or additional probe sets performed.

 

This FISH test allows different combinations of probes to be utilized based on the patient’s age.

 

All probes marked with an asterisk* will be performed as automatic reflex testing if the initial evaluation of the primary gene target is disrupted or potentially disrupted. Patients found to have a MYC rearrangement will be automatically reflexed to the break-apart BCL6 and BCL2 probe sets. Patients found to have three copies of the KAT6A probe will be reflexed with D8Z2/MYC.

 

The FISH panel for patients younger than 3 months of age (Congenital acute leukemia) includes testing for the following abnormalities using the FISH probes listed:

11q23 rearrangement, MLL (KMT2A)

*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

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

t(8;16), KAT6A/CREBBP

*D8Z2/MYC for trisomy 8

t(1;22), RBM15/MKL1

+13/+21, 13q14 and 21q22

 

If no classic abnormalities are observed and conventional chromosome results are available and abnormal, additional FISH probes may be offered.

 

The FISH panel for patients 3 to 18 months of age (infant acute leukemia) is dependent on the reason for testing and the patient’s diagnosis (acute myeloid leukemia [AML],

B-cell acute lymphoblastic leukemia/lymphoma [B-ALL/LBL], or T-cell acute lymphoblastic leukemia/lymphoma [T-ALL/LBL]

 

Acute myeloid leukemia (AML): The initial FISH panel for patients with AML includes testing for the following abnormalities:

11q23 rearrangement, MLL (KMT2A)

*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

 

If an MLL(KMT2A) disruption is not identified, the following secondary AML FISH probes will be evaluated:

inv(16), MYH11/CBFB

*16q22 rearrangement, CBFB break-apart

t(8;21), RUNX1T1/RUNX1

t(15;17), PML/RARA

*17q21 rearrangement, RARA break-apart

-5/5q-, D5S630/EGR1

-7/7q-, D7Z1/ D7S486

inv(3) or t(3;3), RPN1/MECOM

*3q26.2 rearrangement, MECOM break-apart

t(6;9), DEK/NUP214

12p13 rearrangement, ETV6 break-apart

*t(7;12)(q36;p13), MNX1/ETV6

t(8;16), KAT6A/CREBBP

*D8Z2/MYC for trisomy 8

inv(16), GLIS2/CBFA2T3

11p15.4 rearrangement, NUP98 break-apart

*t(7;11)(p15;p15.4), HOXA9/NUP98

t(1;22), RBM15/MKL1

 

B-cell acute lymphoblastic leukemia/lymphoma (B-ALL/LBL): The initial FISH panel for patients with B-ALL/LBL includes testing for the following abnormalities:

11q23 rearrangement, MLL (KMT2A)

*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;p13.3) MLL/MLLT1

 

If an MLL(KMT2A) disruption is not identified, the following secondary panel of B-ALL/LBL FISH probes will be evaluated:

+9/9p-, CDKN2A/D9Z1

t(9;22) BCR/ABL1

*9q34 rearrangement, ABL1 break-apart

-17/17p-, TP53/D17Z1

t(1;19)(q23;p13), PBX1/TCF3

Hyperdiploidy, +4,+10,+17: D4Z1/D10Z1/D17Z1

t(12;21)(p13;q22), ETV6/RUNX1 fusion and iAMP21

*12p13 rearrangement, ETV6 break-apart

*21q22 rearrangement, RUNX1 break-apart

14q32 rearrangement, IGH break-apart

t(Xp22.33;var) or t(Yp11.32;var), CRLF2 rearrangement

*t(X;14)(p22.33;q32) or t(Y;14)(p11.32;q32), CRLF2/IGH

t(Xp22.33;var) or t(Yp11.32;var), P2RY8 rearrangement

8q24.1 rearrangement, MYC break-apart

*3q27 rearrangement, BCL6 break-apart

*18q21 rearrangement, BCL2 break-apart

 

If a classic B-ALL/LBL abnormality is not identified in the first 11 probes analyzed, the following tertiary panel of B-cell ALL FISH probes will be evaluated:

1q25 rearrangement, ABL2 break-apart

5q33 rearrangement, PDGFRB break-apart

9p24.1 rearrangement, JAK2 break-apart

9q34 rearrangement, ABL1 break-apart

7p-, IKZF1/CEP7

 

T-cell acute lymphoblastic leukemia/lymphoma (T-ALL/LBL): The initial FISH panel for patients with T-ALL/LBL includes testing for the following abnormalities:

11q23 rearrangement, MLL (KMT2A) break-apart

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

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

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

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

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

 

If an MLL(KMT2A) disruption is not identified, the following secondary panel of T-ALL/LBL FISH probes will be evaluated:

+9/9p-, CDKN2A/D9Z1

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

*9q34 rearrangement, ABL1 break-apart

-17/17p-, TP53/D17Z1

t(5;14), TLX3/BCL11B

7q34 rearrangement, TRB break-apart

*t(6;7) - MYB/TRB

*t(7;10) - TRB/TLX1

*t(7;11) - TRB/LMO1

*t(7;11) - TRB/LMO2

14q11.2 rearrangement, TRAD break-apart

*t(8;14) - MYC/TRAD

*t(10;14) - TLX1/TRAD

*t(11;14) - LMO1/TRAD

*t(11;14) - LMO2/TRAD

t(10;11), MLLT10/PICALM

1p33 rearrangement, TAL1/STIL

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

Cong Infantile Leukemia, Diag FISH

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

-5 (monosomy 5)

-7 (monosomy 7)

NUP98 rearrangement

5q- (5q deletion)

7q- (7q deletion)

Acute Promyelocytic Leukemia (APL)

inv(16) - inv(16) - MYH11/CBFB

inv(3) - inv(3) - RPN1/MECOM or RPN1/EVI

MLL or KMT2A (11q23) rearrangement

t(1;22)(p13.3;q13.1q13.2) - RBM15/MKL1

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

t(10;11)(p13;q23) - MLLT10/MLL or AF10/MLL

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

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

t(15;17)(q24.1;q21) - PML/RARA

t(16;16)(p13.1;q22) - MYH11/CBFB

t(3;3)(q21.3;q26.2) - RPN1/MECOM or RPN1/EVI1

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

t(6;9)(p23;q34) - DEK/NUP214 or DEK/CAN

t(7;11)(p15;p15.4) - HOXA9/NUP98

t(8;16)(p11.2;p13.3) - KAT6A/CREBBP or MYST3/CREBBP

t(8;21)(q22;q22) - RUNX1T1/RUNX1 or ETO/AML1

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

inv(16)(p24.3;p13.3) - GLIS2/CBFA2T3

+4,+10,+17

17p- (17p deletion) or TP53

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

ABL1 (9q34) rearrangement

ABL2 (1q25) rearrangement

BCR-ABL1 like ALL

CRLF2 (Xp22.33) or (Yp11.32) rearrangement

Hyperdiploidy

Hypodiploid/pseudo-hyperdiploid

Hypotriploid/Near-Triploid

iAMP21 or RUNX1 amplification

IGH (14q32) rearrangement

IKZF1 deletion

JAK2 (9p24.1) rearrangement

MYC (8q24.1) rearrangement

P2RY8 (Xp22.33) or (Yp11.32) rearrangement

PDGFRB (5q33) rearrangement

Ph-like ALL

t(1;19)(q23;p13.3) - PBX1/TCF3

t(12;21)(p13;q22) - TEL/AML1 or ETV6/RUNX1

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

t(X;14)(p22.33;q32) - CRLF2/IGH

t(Y;14)(p11.32;q32) - CRLF2/IGH

ETV6 rearrangement, ETV6

ABL1 amplification

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

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

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

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

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

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

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

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

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

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

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

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

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 4 probe sets (8 individual fluorescence in situ hybridization [FISH] probes). Additional charges will be incurred for all reflex or additional probe sets performed.

 

This FISH test allows different combinations of probes to be utilized based on the patient’s age.

 

All probes marked with an asterisk* will be performed as automatic reflex testing if the initial evaluation of the primary gene target is disrupted or potentially disrupted. Patients found to have a MYC rearrangement will be automatically reflexed to the break-apart BCL6 and BCL2 probe sets. Patients found to have three copies of the KAT6A probe will be reflexed with D8Z2/MYC.

 

The FISH panel for patients younger than 3 months of age (Congenital acute leukemia) includes testing for the following abnormalities using the FISH probes listed:

11q23 rearrangement, MLL (KMT2A)

*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

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

t(8;16), KAT6A/CREBBP

*D8Z2/MYC for trisomy 8

t(1;22), RBM15/MKL1

+13/+21, 13q14 and 21q22

 

If no classic abnormalities are observed and conventional chromosome results are available and abnormal, additional FISH probes may be offered.

 

The FISH panel for patients 3 to 18 months of age (infant acute leukemia) is dependent on the reason for testing and the patient’s diagnosis (acute myeloid leukemia [AML],

B-cell acute lymphoblastic leukemia/lymphoma [B-ALL/LBL], or T-cell acute lymphoblastic leukemia/lymphoma [T-ALL/LBL]

 

Acute myeloid leukemia (AML): The initial FISH panel for patients with AML includes testing for the following abnormalities:

11q23 rearrangement, MLL (KMT2A)

*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

 

If an MLL(KMT2A) disruption is not identified, the following secondary AML FISH probes will be evaluated:

inv(16), MYH11/CBFB

*16q22 rearrangement, CBFB break-apart

t(8;21), RUNX1T1/RUNX1

t(15;17), PML/RARA

*17q21 rearrangement, RARA break-apart

-5/5q-, D5S630/EGR1

-7/7q-, D7Z1/ D7S486

inv(3) or t(3;3), RPN1/MECOM

*3q26.2 rearrangement, MECOM break-apart

t(6;9), DEK/NUP214

12p13 rearrangement, ETV6 break-apart

*t(7;12)(q36;p13), MNX1/ETV6

t(8;16), KAT6A/CREBBP

*D8Z2/MYC for trisomy 8

inv(16), GLIS2/CBFA2T3

11p15.4 rearrangement, NUP98 break-apart

*t(7;11)(p15;p15.4), HOXA9/NUP98

t(1;22), RBM15/MKL1

 

B-cell acute lymphoblastic leukemia/lymphoma (B-ALL/LBL): The initial FISH panel for patients with B-ALL/LBL includes testing for the following abnormalities:

11q23 rearrangement, MLL (KMT2A)

*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;p13.3) MLL/MLLT1

 

If an MLL(KMT2A) disruption is not identified, the following secondary panel of B-ALL/LBL FISH probes will be evaluated:

+9/9p-, CDKN2A/D9Z1

t(9;22) BCR/ABL1

*9q34 rearrangement, ABL1 break-apart

-17/17p-, TP53/D17Z1

t(1;19)(q23;p13), PBX1/TCF3

Hyperdiploidy, +4,+10,+17: D4Z1/D10Z1/D17Z1

t(12;21)(p13;q22), ETV6/RUNX1 fusion and iAMP21

*12p13 rearrangement, ETV6 break-apart

*21q22 rearrangement, RUNX1 break-apart

14q32 rearrangement, IGH break-apart

t(Xp22.33;var) or t(Yp11.32;var), CRLF2 rearrangement

*t(X;14)(p22.33;q32) or t(Y;14)(p11.32;q32), CRLF2/IGH

t(Xp22.33;var) or t(Yp11.32;var), P2RY8 rearrangement

8q24.1 rearrangement, MYC break-apart

*3q27 rearrangement, BCL6 break-apart

*18q21 rearrangement, BCL2 break-apart

 

If a classic B-ALL/LBL abnormality is not identified in the first 11 probes analyzed, the following tertiary panel of B-cell ALL FISH probes will be evaluated:

1q25 rearrangement, ABL2 break-apart

5q33 rearrangement, PDGFRB break-apart

9p24.1 rearrangement, JAK2 break-apart

9q34 rearrangement, ABL1 break-apart

7p-, IKZF1/CEP7

 

T-cell acute lymphoblastic leukemia/lymphoma (T-ALL/LBL): The initial FISH panel for patients with T-ALL/LBL includes testing for the following abnormalities:

11q23 rearrangement, MLL (KMT2A) break-apart

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

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

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

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

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

 

If an MLL(KMT2A) disruption is not identified, the following secondary panel of T-ALL/LBL FISH probes will be evaluated:

+9/9p-, CDKN2A/D9Z1

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

*9q34 rearrangement, ABL1 break-apart

-17/17p-, TP53/D17Z1

t(5;14), TLX3/BCL11B

7q34 rearrangement, TRB break-apart

*t(6;7) - MYB/TRB

*t(7;10) - TRB/TLX1

*t(7;11) - TRB/LMO1

*t(7;11) - TRB/LMO2

14q11.2 rearrangement, TRAD break-apart

*t(8;14) - MYC/TRAD

*t(10;14) - TLX1/TRAD

*t(11;14) - LMO1/TRAD

*t(11;14) - LMO2/TRAD

t(10;11), MLLT10/PICALM

1p33 rearrangement, TAL1/STIL

Specimen Type
Describes the specimen type validated for testing

Varies

Ordering Guidance

This test is only performed on specimens from patients with acute leukemia who are 18 months of age or younger.

 

This test is intended to be ordered when the entire congenital infantile leukemia fluorescence in situ hybridization (FISH) panel is needed.

-If this test is ordered on a patient older than 18 months, this test will be canceled and automatically reordered by the laboratory as BALPF / B-Cell Acute Lymphoblastic Leukemia/Lymphoma (B-ALL/LBL), FISH, Pediatric, Varies; TALPF / T-Cell Acute Lymphoblastic Leukemia (T-ALL), FISH, Pediatric, Varies; or AMLPF / Acute Myeloid Leukemia (AML), FISH, Pediatric, Varies, based on patient’s reason for testing.

-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 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; or COGMF / Acute Myeloid Leukemia (AML), Children's Oncology Group Enrollment Testing, FISH, Varies, based on the patient’s protocol.

 

If limited congenital infantile leukemia FISH probes are preferred, order CILMF / Congenital Infantile Leukemia, Specified FISH, Varies.

 

At follow-up, targeted FISH probes can be evaluated based on the abnormalities identified in the diagnostic study. Order CILMF / Congenital Infantile Leukemia, Specified FISH, Varies and request specific probes or abnormalities.

 

For testing paraffin embedded tissue samples from patients with congenital infantile leukemia, order CILPF / Congenital Infantile Leukemia, FISH, Tissue.

Additional Testing Requirements

At diagnosis, conventional cytogenetic studies (CHRBM / Chromosome Analysis, Hematologic Disorders, Bone Marrow) and this panel should be performed.

Shipping Instructions

Advise Express Mail or equivalent if not on courier service.

Necessary Information

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: 2-3 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.

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

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

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 4 probe sets (8 individual fluorescence in situ hybridization [FISH] probes). Additional charges will be incurred for all reflex or additional probe sets performed.

 

This FISH test allows different combinations of probes to be utilized based on the patient’s age.

 

All probes marked with an asterisk* will be performed as automatic reflex testing if the initial evaluation of the primary gene target is disrupted or potentially disrupted. Patients found to have a MYC rearrangement will be automatically reflexed to the break-apart BCL6 and BCL2 probe sets. Patients found to have three copies of the KAT6A probe will be reflexed with D8Z2/MYC.

 

The FISH panel for patients younger than 3 months of age (Congenital acute leukemia) includes testing for the following abnormalities using the FISH probes listed:

11q23 rearrangement, MLL (KMT2A)

*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

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

t(8;16), KAT6A/CREBBP

*D8Z2/MYC for trisomy 8

t(1;22), RBM15/MKL1

+13/+21, 13q14 and 21q22

 

If no classic abnormalities are observed and conventional chromosome results are available and abnormal, additional FISH probes may be offered.

 

The FISH panel for patients 3 to 18 months of age (infant acute leukemia) is dependent on the reason for testing and the patient’s diagnosis (acute myeloid leukemia [AML],

B-cell acute lymphoblastic leukemia/lymphoma [B-ALL/LBL], or T-cell acute lymphoblastic leukemia/lymphoma [T-ALL/LBL]

 

Acute myeloid leukemia (AML): The initial FISH panel for patients with AML includes testing for the following abnormalities:

11q23 rearrangement, MLL (KMT2A)

*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

 

If an MLL(KMT2A) disruption is not identified, the following secondary AML FISH probes will be evaluated:

inv(16), MYH11/CBFB

*16q22 rearrangement, CBFB break-apart

t(8;21), RUNX1T1/RUNX1

t(15;17), PML/RARA

*17q21 rearrangement, RARA break-apart

-5/5q-, D5S630/EGR1

-7/7q-, D7Z1/ D7S486

inv(3) or t(3;3), RPN1/MECOM

*3q26.2 rearrangement, MECOM break-apart

t(6;9), DEK/NUP214

12p13 rearrangement, ETV6 break-apart

*t(7;12)(q36;p13), MNX1/ETV6

t(8;16), KAT6A/CREBBP

*D8Z2/MYC for trisomy 8

inv(16), GLIS2/CBFA2T3

11p15.4 rearrangement, NUP98 break-apart

*t(7;11)(p15;p15.4), HOXA9/NUP98

t(1;22), RBM15/MKL1

 

B-cell acute lymphoblastic leukemia/lymphoma (B-ALL/LBL): The initial FISH panel for patients with B-ALL/LBL includes testing for the following abnormalities:

11q23 rearrangement, MLL (KMT2A)

*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;p13.3) MLL/MLLT1

 

If an MLL(KMT2A) disruption is not identified, the following secondary panel of B-ALL/LBL FISH probes will be evaluated:

+9/9p-, CDKN2A/D9Z1

t(9;22) BCR/ABL1

*9q34 rearrangement, ABL1 break-apart

-17/17p-, TP53/D17Z1

t(1;19)(q23;p13), PBX1/TCF3

Hyperdiploidy, +4,+10,+17: D4Z1/D10Z1/D17Z1

t(12;21)(p13;q22), ETV6/RUNX1 fusion and iAMP21

*12p13 rearrangement, ETV6 break-apart

*21q22 rearrangement, RUNX1 break-apart

14q32 rearrangement, IGH break-apart

t(Xp22.33;var) or t(Yp11.32;var), CRLF2 rearrangement

*t(X;14)(p22.33;q32) or t(Y;14)(p11.32;q32), CRLF2/IGH

t(Xp22.33;var) or t(Yp11.32;var), P2RY8 rearrangement

8q24.1 rearrangement, MYC break-apart

*3q27 rearrangement, BCL6 break-apart

*18q21 rearrangement, BCL2 break-apart

 

If a classic B-ALL/LBL abnormality is not identified in the first 11 probes analyzed, the following tertiary panel of B-cell ALL FISH probes will be evaluated:

1q25 rearrangement, ABL2 break-apart

5q33 rearrangement, PDGFRB break-apart

9p24.1 rearrangement, JAK2 break-apart

9q34 rearrangement, ABL1 break-apart

7p-, IKZF1/CEP7

 

T-cell acute lymphoblastic leukemia/lymphoma (T-ALL/LBL): The initial FISH panel for patients with T-ALL/LBL includes testing for the following abnormalities:

11q23 rearrangement, MLL (KMT2A) break-apart

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

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

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

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

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

 

If an MLL(KMT2A) disruption is not identified, the following secondary panel of T-ALL/LBL FISH probes will be evaluated:

+9/9p-, CDKN2A/D9Z1

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

*9q34 rearrangement, ABL1 break-apart

-17/17p-, TP53/D17Z1

t(5;14), TLX3/BCL11B

7q34 rearrangement, TRB break-apart

*t(6;7) - MYB/TRB

*t(7;10) - TRB/TLX1

*t(7;11) - TRB/LMO1

*t(7;11) - TRB/LMO2

14q11.2 rearrangement, TRAD break-apart

*t(8;14) - MYC/TRAD

*t(10;14) - TLX1/TRAD

*t(11;14) - LMO1/TRAD

*t(11;14) - LMO2/TRAD

t(10;11), MLLT10/PICALM

1p33 rearrangement, TAL1/STIL

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

While pediatric leukemia is the most common malignancy affecting children, acute leukemia occurring prior to the age of 18 months (infant leukemia) or occurring within the first 3 months of life (congenital leukemia) are relatively rare in occurrence. The incidence of congenital and infant acute leukemia cases (through 12 months of age) is estimated at only 30 to 40 cases/million/year, with the majority comprising infant cases. Nearly all cases of congenital and infant acute leukemia represent either acute myeloid leukemia (AML) or B-cell acute lymphoblastic leukemia/lymphoma (B-ALL/LBL) with only very rare cases of T-cell acute lymphoblastic leukemia/lymphoma (T-ALL/LBL) identified in this age group.

 

Characteristic genetic abnormalities have been identified in both the congenital acute leukemia and infant acute leukemia setting, each with uniquely associated clinical-pathologic correlations. Rare but important patients with KAT6A/CREBBP translocations and congenital acute leukemia have been described with spontaneously remitting AML despite the lack of therapeutic intervention. In addition, transient abnormal myelopoiesis associated with Down syndrome is another common manifestation encountered in the neonatal setting that can be associated with the development of frank acute leukemia. In contrast, nearly 80% of infant acute leukemia cases are associated with MLL(KMT2A) translocation events with varying percentages of translocation partners based on an AML versus B-ALL/LBL presentation.

 

Due to the underlying genetic heterogeneity associated with both congenital and infant leukemia and the important prognostic, diagnostic and occasional therapeutic targets identified, appropriate genetic characterization of this uncommon acute leukemia presentation is critical. These thorough fluorescence in situ hybridization (FISH) panels have been developed by Mayo Clinic Laboratories to interrogate the more common AML and B-ALL abnormalities associated with both congenital and infant acute leukemias. These FISH probes have been validated both in bone marrow/blood (this test) and in paraffin (CILPF / Congenital Infantile Leukemia, FISH, Tissue), since a significant minority of these patient’s present clinically with isolated extramedullary (tissue) manifestations (ie, myeloid sarcoma).

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 a 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 sample type for this FISH test. If bone marrow is not available, a blood specimen may be used if there are neoplastic 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. 4th ed. IARC Press; 2017

2. Tomizawa D: Recent progress in the treatment of infant acute lymphoblastic leukemia. Pediatr Int. 2015 Oct;57(5):811-819. doi: 10.1111/ped.12758

3. Inaba H, Zhou Y, Abla O, et al: Heterogeneous cytogenetic subgroups and outcomes in childhood acute megakaryoblastic leukemia: a retrospective international study. Blood. 2015 Sep 24;126(13):1575-1584. doi: 10.1182/blood-2015-02-629204

4. Coenen EA, Zwaan CM, Reinhardt D, et al: Pediatric acute myeloid leukemia with t(8;16)(p11;p13), a distinct clinical and biological entity: a collaborative study by the International-Berlin-Frankfurt-Munster AML-study group. Blood. 2013 Oct 10;122(15):2704-2713. doi: 10.1182/blood-2013-02-485524

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. Gain or loss of chromosomes 4, 5, 7, 8, 13, 17, and 21 are detected using enumeration strategy probes. Deletion of the CDKN2A locus on chromosome 9, TP53 on chromosome 17, deletion of IKZF1 on chromosome 7 are detected using an enumeration strategy.

 

Rearrangements involving the following genes: MLL (KMT2A), NUP98, ETV6, CBFB, RARA, ABL2, PDGFRB, MYC, JAK2, ABL1, IGH, CRLF2, P2RY8 ,TAL1/STIL, TRB, and TRAD are detected using a dual-color break-apart (BAP) strategy probe. If a MYC gene region separation is identified, break-apart BCL2 and BCL6 will be evaluated using a dual-color break-apart (BAP) strategy probe. Dual-color, dual-fusion fluorescence in situ hybridization (D-FISH) strategy probe sets are used to detect inv(3), inv(16), t(8;21), t(15;17), t(6;9), t(8;16), t(3;21), t(1;3), t(1;22), t(7;11), t(7;12), t(9;22), t(12;21), t(1;19), t(5;14), t(9;22), t(10;11), and in reflex testing when a rearrangement of the MLL, TRB, TRAD gene region is observed. Amplification of ABL1 (9q34) or RUNX1 (iAMP21; 21q22) are 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.

88271 x 8, 88275 x 4, 88291-FISH Probe, Analysis, Interpretation; 4 probe sets

88271 x 2, 88275-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