Web: | mayocliniclabs.com |
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Email: | mcl@mayo.edu |
Telephone: | 800-533-1710 |
International: | +1 855-379-3115 |
Values are valid only on day of printing. |
Evaluation of pediatric bone marrow and peripheral blood specimens by fluorescence in situ hybridization (FISH) probe analysis for classic rearrangements and chromosomal copy number changes associated with acute myeloid leukemia (AML) in patients being considered for enrolment in Children's Oncology Group (COG) clinical trials and research protocols
Cytogenetic testing is important for the diagnostic and prognostic classification of pediatric neoplasia and it is a critical element for the enrollment of children into clinical trials affiliated with the Children's Oncology Group (COG). For over 25 years, the Mayo Clinic Genomics Laboratory has served as one of a select number of laboratories in the United States approved by the COG for the conventional chromosome analysis and fluorescence in situ hybridization (FISH) analysis of pediatric bone marrow, peripheral blood, and tissue specimens. All enrollment-required elements of cytogenetic testing will be electronically submitted by the Mayo Clinic Genomics Laboratory within the guidelines of COG.
Test ID | Reporting Name | Available Separately | Always Performed |
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_PBCT | Probe, +2 | No, (Bill Only) | No |
_PADD | Probe, +1 | No, (Bill Only) | No |
_PB02 | Probe, +2 | No, (Bill Only) | No |
_PB03 | Probe, +3 | 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 |
This test is only performed on specimens from pediatric patients who are candidates for enrollment in Children's Oncology Group (COG) clinical trials and research protocols.
For diagnostic samples, all probes in the initial panel will be performed. The initial panel includes testing for the following abnormalities using the probes listed:
t(8;21), [M2], RUNX1T1/RUNX1
t(15;17), [M3], PML/RARA
11q23 rearrangement, [M0-M7], MLL (KMT2A)
inv(16), [M4, Eos], MYH11/CBFB
Based on the results from the initial panel, reflex testing may be performed to identify the following abnormalities:
t(6;9), [M2,M4], DEK/NUP214
inv(3) or t(3;3), [M1,2,4,6,7], RPN1/MECOM
t(8;16), [M4,M5], MYST3/CREBBP
t(1;22), [M7], RBM15/MKL1*
-5/5q-, D5S630/EGR1
-7/7q-, D7S486/D7Z1
17p-, TP53/D17Z1
t(9;22), BCR/ABL1
*The RBM15/MKL1 probe set will only be used to test patients with a suspected or confirmed diagnosis of M7 or to confirm a t(1;22) identified by chromosome analysis.
-When a MLL (KMT2A) rearrangement is identified, reflex testing will be performed to identify the translocation partner. Probes include identification of t(4;11)(q21;q23) AFF1/MLL, t(6;11)(q27;q23) MLLT4/MLL, t(9;11)(p22;q23) MLLT3/MLL, t(10;11)(p13;q23) MLLT10/MLL, t(11;16)(q23;p13.3) MLL/CREBBP, t(11;19)(q23;p13.1) MLL/ELL, or t(11;19)(q23;p13.3) MLL/MLLT1.
-When 3 copies of MECOM are observed with no fusion with RPN1, reflex testing using the MECOM/RUNX1 probe set will be performed to identify a potential t(3;21)(q26.2;q22) rearrangement.
-When 3 copies of RPN1 are observed with no fusion with MECOM, reflex testing using the PRDM16/RPN1 probe set will be performed to identify a potential t(1;3)(p36;q21).
The following testing algorithm is recommended for patients with acute myeloid leukemia (AML):
-At diagnosis, AML FISH panel and/or conventional chromosome studies COGBM / Chromosome Analysis, Hematologic Disorders, Children's Oncology Group Enrollment Testing, Bone Marrow should be performed. If there is limited specimen available, only the COGMF / Acute Myeloid Leukemia (AML), FISH, Children's Oncology Group Enrollment Testing, varies will be performed.-If this test is ordered and the laboratory is informed that the patient is not on a COG protocol, this test will be canceled and automatically reordered by the laboratory as AMLF / Acute Myeloid Leukemia (AML), FISH, Varies.
See Acute Promyelocytic Leukemia: Guideline to Diagnosis and Follow-up in Special Instructions |
Fluorescence In Situ Hybridization (FISH)