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HelpTest Code CILPF Congenital Infantile Leukemia, FISH, 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
A reason for testing and pathology report are required for testing to be performed. Send information with specimen. Acceptable pathology reports include working drafts, preliminary pathology or surgical pathology reports. 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.
Specimen Required
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.
Useful For
Detecting a neoplastic clone associated with the common chromosome abnormalities and classic rearrangements seen in infant patients with leukemia using tissue specimens
Reflex 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
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 is not 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
Appropriate ancillary probes may be performed at consultant discretion to render comprehensive assessment. Any additional probes will have the results included within the final report and will be performed at an additional charge.
Reporting Name
Congenital Infantile Leuk, FISH, TsSpecimen Type
TissueSpecimen Minimum Volume
15 consecutive, unstained, 5-micron-thick sections placed on positively charged slides, and 1 hematoxylin and eosin-stained slide.
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Tissue | Ambient (preferred) | ||
| Refrigerated | |||
Reject Due To
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.Reference Values
An interpretive report will be provided.
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.
Day(s) Performed
Monday through Friday
Report Available
7 to 10 daysSpecimen Retention Time
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
Mayo Clinic Laboratories in Rochester
CPT Code Information
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)
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| CILPF | Congenital Infantile Leuk, FISH, Ts | In Process |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 614181 | Result Summary | 50397-9 |
| 614182 | Interpretation | 69965-2 |
| 614183 | Result Table | 93356-4 |
| 614184 | Result | 62356-1 |
| GC095 | Reason for Referral | 42349-1 |
| 614185 | Specimen | 31208-2 |
| 614186 | Source | 31208-2 |
| 614187 | Tissue ID | 80398-1 |
| 614188 | Method | 85069-3 |
| 614189 | Additional Information | 48767-8 |
| 614190 | Disclaimer | 62364-5 |
| 614191 | Released by | 18771-6 |
Forms
If not ordering electronically, complete, print, and send a Hematopathology/Cytogenetics Test Request (T726) with the specimen.