Test Catalog

Test Id : CILPF

Congenital Infantile Leukemia, 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 and classic rearrangements seen in infant patients with leukemia using tissue specimens

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
_PADD Probe, +1 No, Bill Only No
_PB02 Probe, +2 No, Bill Only No
_PB03 Probe, +3 No, Bill Only No
_PBCT Probe, +2 No, Bill Only No
_IL25 Interphases, <25 No, Bill Only No
_I099 Interphases, 25-99 No, Bill Only No
_I300 Interphases, >=100 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 application of the first probe set (2 fluorescence in situ hybridization [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.

 

This FISH test allows different combinations of probes to be utilized based on the patient’s age and clinical question, per client request.

 

All probes marked with an asterisk* will be performed as reflex testing, without notification, if the corresponding region was disrupted or potentially disrupted. Patients found to have a MYC rearrangement will be reflexed to the break-apart BCL6 and BCL2 probe sets. Patients found to have 3 copies of KAT6A will be reflexed with D8Z2/MYC.

 

The FISH panel for patients younger than 3 months 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), [M4,M5], KAT6A/CREBBP

*D8Z2/MYC for trisomy 8

t(1;22), [M7], RBM15/MKL1

+13/+21, 13q14 and 21q22

 

If no classic abnormalities are observed, other FISH probes may be offered by the laboratory.

 

The FISH panel is dependent on the reason for testing and the patient’s diagnosis (acute myeloid leukemia [AML], B-cell acute lymphoblastic leukemia [ALL], or T-cell ALL).

 

The initial FISH panel for patients 3 months to 18 months of age 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 disruption is not identified, the following secondary AML FISH probes will be evaluated:

inv(16), [M4, Eos], MYH11/CBFB

t(8;21), [M2], RUNX1T1/RUNX1

t(15;17), [M3], PML/RARA

12p13 rearrangement, ETV6 break-apart

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

t(8;16), [M4,M5], KAT6A/CREBBP

inv(16), GLIS2/CBFA2T3

11p15.4 rearrangement, NUP98 break-apart

t(1;22), [M7], RBM15/MKL1

 

The initial FISH panel for patients 3 to 18 months of age with B-cell ALL 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 disruption is not identified, the following secondary panel of B-cell ALL FISH probes will be evaluated:

+9/9p-, CDKN2A/D9Z1

t(9;22) BCR/ABL1 fusion

-17/17p-, TP53/D17Z1

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

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

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

*12p13 rearrangement, ETV6 break-apart

14q32 rearrangement, IGH break-apart

8q24.1 rearrangement, MYC

*3q27 rearrangement, BCL6 break-apart

*18q21 rearrangement, BCL2 break-apart

 

If a classic B-cell ALL abnormality was not been identified in the first 11 probes analyzed, the following tertiary panel of B-cell ALL FISH probes will be evaluated, 9p24.1 rearrangement, JAK2

 

The initial FISH panel for patients 3 to 18 months of age with T-cell ALL includes testing for the following abnormalities:

11q23 rearrangement, MLL (KMT2A)

*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 disruption is not identified, the following secondary panel of T-cell ALL FISH probes will be evaluated:

+9/9p-, CDKN2A/D9Z1

t(9;22) BCR/ABL1

-17/17p-, TP53/D17Z1

t(5;14), TLX3/BCL11B

7q34 rearrangement, TRB

*t(7;10) - TRB/TLX1

14q11.2 rearrangement, TRAD

*t(10;14) - TLX1/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

Congenital Infantile Leuk, FISH, Ts

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

NUP98 rearrangement

Acute Promyelocytic Leukemia (APL)

AML-M0

AML-M1

AML-M2

AML-M3

AML-M4

AML-M4eo

AML-M5

AML-M7

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

MLL or KMT2A (11q23) rearrangement

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

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

t(11;16)(q23;p13.3) - MLL/CREBBP

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

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

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

BCR-ABL1 like ALL

Hyperdiploidy

Hypodiploid/pseudo-hyperdiploid

IGH (14q32) rearrangement

JAK2 (9p24.1) rearrangement

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

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

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

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

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

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 application of the first probe set (2 fluorescence in situ hybridization [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.

 

This FISH test allows different combinations of probes to be utilized based on the patient’s age and clinical question, per client request.

 

All probes marked with an asterisk* will be performed as reflex testing, without notification, if the corresponding region was disrupted or potentially disrupted. Patients found to have a MYC rearrangement will be reflexed to the break-apart BCL6 and BCL2 probe sets. Patients found to have 3 copies of KAT6A will be reflexed with D8Z2/MYC.

 

The FISH panel for patients younger than 3 months 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), [M4,M5], KAT6A/CREBBP

*D8Z2/MYC for trisomy 8

t(1;22), [M7], RBM15/MKL1

+13/+21, 13q14 and 21q22

 

If no classic abnormalities are observed, other FISH probes may be offered by the laboratory.

 

The FISH panel is dependent on the reason for testing and the patient’s diagnosis (acute myeloid leukemia [AML], B-cell acute lymphoblastic leukemia [ALL], or T-cell ALL).

 

The initial FISH panel for patients 3 months to 18 months of age 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 disruption is not identified, the following secondary AML FISH probes will be evaluated:

inv(16), [M4, Eos], MYH11/CBFB

t(8;21), [M2], RUNX1T1/RUNX1

t(15;17), [M3], PML/RARA

12p13 rearrangement, ETV6 break-apart

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

t(8;16), [M4,M5], KAT6A/CREBBP

inv(16), GLIS2/CBFA2T3

11p15.4 rearrangement, NUP98 break-apart

t(1;22), [M7], RBM15/MKL1

 

The initial FISH panel for patients 3 to 18 months of age with B-cell ALL 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 disruption is not identified, the following secondary panel of B-cell ALL FISH probes will be evaluated:

+9/9p-, CDKN2A/D9Z1

t(9;22) BCR/ABL1 fusion

-17/17p-, TP53/D17Z1

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

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

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

*12p13 rearrangement, ETV6 break-apart

14q32 rearrangement, IGH break-apart

8q24.1 rearrangement, MYC

*3q27 rearrangement, BCL6 break-apart

*18q21 rearrangement, BCL2 break-apart

 

If a classic B-cell ALL abnormality was not been identified in the first 11 probes analyzed, the following tertiary panel of B-cell ALL FISH probes will be evaluated, 9p24.1 rearrangement, JAK2

 

The initial FISH panel for patients 3 to 18 months of age with T-cell ALL includes testing for the following abnormalities:

11q23 rearrangement, MLL (KMT2A)

*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 disruption is not identified, the following secondary panel of T-cell ALL FISH probes will be evaluated:

+9/9p-, CDKN2A/D9Z1

t(9;22) BCR/ABL1

-17/17p-, TP53/D17Z1

t(5;14), TLX3/BCL11B

7q34 rearrangement, TRB

*t(7;10) - TRB/TLX1

14q11.2 rearrangement, TRAD

*t(10;14) - TLX1/TRAD

t(10;11), MLLT10/PICALM

1p33 rearrangement, TAL1/STIL

Specimen Type
Describes the specimen type validated for testing

Tissue

Ordering Guidance

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

 

For testing bone marrow or blood specimens from patients with congenital infantile leukemia, order CILDF / Congenital Infantile Leukemia, Diagnostic FISH, Varies.

 

If this test is ordered on a patient older than 18 months of age and the reason for testing is B-cell or T-cell acute lymphocytic leukemia (B-ALL or T-ALL), this test will be canceled and automatically reordered by the laboratory as BLBLF / B-Cell Acute Lymphoblastic Leukemia/Lymphoma, FISH, Tissue or TLBLF / T-Cell Acute Lymphoblastic Leukemia/Lymphoma, FISH, Tissue.

 

If this test is ordered on a patient older than 18 months of age and the reason for testing is acute myeloid leukemia (AML), this test will be canceled and automatically reordered by the laboratory as MSTF / Myeloid Sarcoma, FISH, Tissue.

 

This test does not include a pathology consult. If a pathology consultation is requested, PATHC / Pathology Consultation should be ordered and the appropriate FISH test will be ordered and performed at an additional charge.

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:

 

Specimen Type: Tissue

Preferred: Tissue block

Collection Instructions: Submit a formalin-fixed, paraffin-embedded (FFPE) tumor tissue block. Blocks prepared with alternative fixation methods may be acceptable; provide fixation method used.

Additional Information:

1. The paraffin embedded specimen can be from any anatomic location (skin, soft tissue, lymph node, etc.).

2. Bone specimens that have been decalcified will be attempted for FISH, with a success rate of approximately 50%.

 

Acceptable: Slides

Collection Instructions: 20 Consecutive, unstained, 5 micron-thick sections placed on positively charged slides, and 1 hematoxylin and eosin-stained slide.

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

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 and classic rearrangements seen in infant patients with leukemia using tissue specimens

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

This test includes a charge for application of the first probe set (2 fluorescence in situ hybridization [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.

 

This FISH test allows different combinations of probes to be utilized based on the patient’s age and clinical question, per client request.

 

All probes marked with an asterisk* will be performed as reflex testing, without notification, if the corresponding region was disrupted or potentially disrupted. Patients found to have a MYC rearrangement will be reflexed to the break-apart BCL6 and BCL2 probe sets. Patients found to have 3 copies of KAT6A will be reflexed with D8Z2/MYC.

 

The FISH panel for patients younger than 3 months 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), [M4,M5], KAT6A/CREBBP

*D8Z2/MYC for trisomy 8

t(1;22), [M7], RBM15/MKL1

+13/+21, 13q14 and 21q22

 

If no classic abnormalities are observed, other FISH probes may be offered by the laboratory.

 

The FISH panel is dependent on the reason for testing and the patient’s diagnosis (acute myeloid leukemia [AML], B-cell acute lymphoblastic leukemia [ALL], or T-cell ALL).

 

The initial FISH panel for patients 3 months to 18 months of age 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 disruption is not identified, the following secondary AML FISH probes will be evaluated:

inv(16), [M4, Eos], MYH11/CBFB

t(8;21), [M2], RUNX1T1/RUNX1

t(15;17), [M3], PML/RARA

12p13 rearrangement, ETV6 break-apart

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

t(8;16), [M4,M5], KAT6A/CREBBP

inv(16), GLIS2/CBFA2T3

11p15.4 rearrangement, NUP98 break-apart

t(1;22), [M7], RBM15/MKL1

 

The initial FISH panel for patients 3 to 18 months of age with B-cell ALL 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 disruption is not identified, the following secondary panel of B-cell ALL FISH probes will be evaluated:

+9/9p-, CDKN2A/D9Z1

t(9;22) BCR/ABL1 fusion

-17/17p-, TP53/D17Z1

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

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

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

*12p13 rearrangement, ETV6 break-apart

14q32 rearrangement, IGH break-apart

8q24.1 rearrangement, MYC

*3q27 rearrangement, BCL6 break-apart

*18q21 rearrangement, BCL2 break-apart

 

If a classic B-cell ALL abnormality was not been identified in the first 11 probes analyzed, the following tertiary panel of B-cell ALL FISH probes will be evaluated, 9p24.1 rearrangement, JAK2

 

The initial FISH panel for patients 3 to 18 months of age with T-cell ALL includes testing for the following abnormalities:

11q23 rearrangement, MLL (KMT2A)

*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 disruption is not identified, the following secondary panel of T-cell ALL FISH probes will be evaluated:

+9/9p-, CDKN2A/D9Z1

t(9;22) BCR/ABL1

-17/17p-, TP53/D17Z1

t(5;14), TLX3/BCL11B

7q34 rearrangement, TRB

*t(7;10) - TRB/TLX1

14q11.2 rearrangement, TRAD

*t(10;14) - TLX1/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 occuring prior to the age of 18 months (infant leukemia) or occuring 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 lymphocytic leukemia/lymphoblastic lymphoma (B-ALL/LBL) with only very rare cases of T-cell-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 CILDF / Congenital Infantile Leukemia, Diagnostic FISH, Varies and in paraffin CILPF / Congenital Infantile Leukemia, FISH, Tissuesince 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.

 

A positive result is not diagnostic for congenital or infantile leukemia 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’s) may not be successful for fluorescence in situ hybridization (FISH) assays. Although FISH testing will not be rejected due to non-formalin fixation, results may be compromised.

 

Paraffin-embedded tissues that have been decalcified may be unsuccessful for FISH analysis. FISH studies will be attempted if sufficient tumor is present for analysis. The pathologist reviewing the hematoxylin and eosin-stained slide may find it necessary to cancel testing. If no FISH signals are observed post-hybridization, the case will be released indicating a lack of FISH results.

Supportive Data

For each probe set, blinded fluorescence in situ hybridization (FISH) analysis was performed on 20 to 25 normal paraffin-embedded, formalin-fixed tissue controls and between 2 and 20 paraffin-embedded, formalin-fixed tissue samples from patients diagnosed with B-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. 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;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;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;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, 8, 10, 13, 17, and 21 are detected using enumeration strategy probes. Deletion of the CDKN2A locus on chromosome 9 and TP53 on chromosome 17 are detected using enumeration strategy. Rearrangements involving genes involving MLL (KMT2A), NUP98, ETV6, MYC, JAK2, IGH, 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(16), t(8;21), t(15;17), t(8;16), t(1;22),  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) 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 hematoxylin and eosin 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, 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 x2, 88291-DNA probe, each (first probe set), interpretation and report

88271 x2-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)

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