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HelpTest ID CILDF Congenital Infantile Leukemia, Diagnostic FISH, Varies
Ordering Guidance
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 19 months or older, this test will be canceled and automatically reordered by the laboratory as BALPF / B-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), Pediatric, FISH, Varies; TALPF / T-Cell Acute Lymphoblastic Leukemia/Lymphoma (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-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), Children's Oncology Group Enrollment Testing, FISH, Varies; COGTF / T-Cell Acute Lymphoblastic Leukemia/Lymphoma (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.
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
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; however, appropriate testing and interpretation may be compromised or delayed. If not provided, an appropriate indication for testing may be entered by Mayo Clinic Laboratories.
Specimen Required
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.
3. Send bone marrow specimen in original tube. Do not aliquot.
Acceptable
Specimen Type: Whole blood
Container/Tube:
Preferred: Yellow top (ACD)
Acceptable: Green top (heparin) or lavender top (EDTA)
Specimen Volume: 6 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send whole blood specimen in original tube. Do not aliquot.
Forms
If not ordering electronically, complete, print, and send a Hematopathology/Cytogenetics Test Request (T726) with the specimen.
Useful For
An adjunct to conventional chromosome studies in congenital and infant patients with acute leukemia
Testing Algorithm
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].
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:
*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-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:
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
5q32 rearrangement, PDGFRB break-apart
9p24.1 rearrangement, JAK2 break-apart
9q34 rearrangement, ABL1 break-apart
7p-, IKZF1/CEP7
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:
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
Fluorescence In Situ Hybridization (FISH)
Reporting Name
Cong Infantile Leukemia, Diag FISHSpecimen Type
VariesSpecimen Minimum Volume
Blood: 2 mL
Bone Marrow: 1 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Ambient (preferred) | ||
| Refrigerated | |||
Reference Values
An interpretive report will be provided.
Day(s) Performed
Monday through Friday
Report Available
7 to 10 daysPerforming Laboratory
Mayo Clinic Laboratories in Rochester
Test Classification
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
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)
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| CILDF | Cong Infantile Leukemia, Diag FISH | In Process |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 609598 | Result Summary | 50397-9 |
| 609599 | Interpretation | 69965-2 |
| 609600 | Result Table | 93356-4 |
| 609601 | Result | 62356-1 |
| GC083 | Reason for Referral | 42349-1 |
| GC084 | Specimen | 31208-2 |
| 609602 | Source | 31208-2 |
| 609603 | Method | 85069-3 |
| 609604 | Additional Information | 48767-8 |
| 609605 | Disclaimer | 62364-5 |
| 609606 | Released By | 18771-6 |