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Cytogenetics Laboratory

Cytogenetic Testing for Neoplastic Disorders

Chromosome Analyses for Neoplastic Disorders
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FISH studies for Neoplastic Disorders
The following FISH tests/panels are also listed below by corresponding disorder.
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Acute Lymphoblastic Leukemia (ALL) -  B-Cell
Panel, recommended for pediatric patients, includes testing for the following anomalies via the probes listed:
t(9;22), ABL1/BCR
t(12;21), ETV6/RUNX1
t(1;19), PBX1/TCF3
+4, +10, +17, Cen4/10/17
t(11q23;var), MLL
del (9p), CDKN2A/Cen9
t(X;14)(p22.3;q32), CRLF2/IGH
t(Y;14)(p11.3;q32), CRLF2/IGHI
t(9;11), ELL
t(11;19), ELL
Pediatric patients: Please indicate if you would like the entire panel.  This is suggested for pediatric patients with a new diagnosis.  If patient is being tracked for known anomalies, please indicate which anomalies need to be investigated.
Adult patients:  Only FISH for ABL1/BCR and MLL are recommended in adult patients with B-Cell ALL.
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Acute Lymphoblastic Leukemia (ALL) – T-Cell
Please indicate that the patient has pre-T cell ALL. 
ABL1/NUP214 co-amplification, ABL1/NUP214/Cen 9
del(9)(p21), CDKN2A/Cen9
t(11;var)(q23;var), MLL
t(9;11), ELL
t(11;19), ELL
17p-, TP53/D17Z1
7q34 rearrangement, TCRβ
Reflex for TCRβ anomaly:
t(7;10)(q34;q24), TCRβ/HOX11
t(7;11)(q34;p13), TCRβ/LMO1
t(7;11)(q34;p15), TCRβ/LMO2
t(6;7)(q27;q34), TCRβ/MYB
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Acute Myeloid Leukemia (AML)
Please indicate subtype as well as which anomalies need to be investigated, from the following profile:
t(8;21), [M2], RUNX1T1/RUNX1
t(15;17), [M3], PML/RARA
t(11q23;var), [M0-M7], MLL
inv(16), [M4, Eos], MYH11/CBFbeta
+8, [M0-M7], Cen8/c-MYC
t(6;9), [M2, M4], DEK/NUP214
inv(3), [M1,2,4,6,7], RPN1/MECOM
t(3;5)(q25;q34), MLF1/NPM1I
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Chronic Lymphocytic Leukemia (CLL)
 FISH panel is recommended in place of chromosome analysis for this disorder.  Panel includes testing for the following anomalies via the probes listed:
6q-, c-MYB/Cen6
11q-, ATM/Cen11
+12, D12Z3/MDM2
13q-, D13S319/LAMP1
17p-, TP53/Cen17
t(11;14), CCND1/IgH
Reflex for IgH anomaly:
t(14;18), IgH /BCL2
t(14;19), IgH /BCL3  
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Chronic Myeloid Leukemia (CML)
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Chronic Myelomonocytic Leukemia  (CMML)
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Hypereosinophilic Syndrome
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Imatinib Mesylate Responsive Genes
Panel, recommended for pediatric patients, includes testing for the following anomalies via the probes listed:
1q25 anomalies, ABL2
4q12 anomalies, PDGFRA
5q33 anomalies, PDGFRB
9q34 anomalies, ABL1
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Lymphoma
Includes a mini-pathology consult to evaluate appropriate FISH probes and translocations to investigate.  Panel includes testing for the following anomalies via the probes listed:
t(8;14), c-MYC/IGH
t(8q24.1;var), c-MYC
t(11;14), CCND1/IGH
t(11;18), BIRC3/MALT1
t(14;18), IGH/MALT1
t(14;18), IGH/BCL2
t(3;var), BCL6
Includes a mini-pathology consult to evaluate appropriate FISH probes and translocations to investigate.  Panel includes testing for the following anomalies via the probes listed:
t(11;14), CCND1/IGH
t(14;18), IGH/BCL2
t(8q24.1;var), c-MYC
t(8;14), c-MYC/IGH
t(11;18) , BIRC3/MALT1
reflex t(14;18), IGH/MALT1
t(3q27;var), BCL6
Includes a mini-pathology consult to evaluate appropriate FISH probes and translocations to investigate.  Panel includes testing for the following anomalies via the probes listed:
t(14;var)(q32.1;var), TCL1
-7/7q-/i(7q), D7S486/cen7
+8, cen8/c-MYC
Includes a mini-pathology consult to evaluate appropriate FISH probes and translocations to investigate.  Panel includes testing for the following anomalies via the probes listed:
t(14;var)(q32.1;var), TCL1
-7/7q-/i(7q), D7S486/cen7
+8, cen8/ c-MYC
t(2;var)(p23.2;var)/inv(2) ALK
ABL1/NUP214 co-amplication, ABL1/NUP214/Cen9
del(9)(p21) CDKN2A/Cen9
t(11;var)(q23;var) MLL
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Myelodysplastic Syndrome (MDS)
Chromosome analysis is recommended as first tier testing for this disorder; FISH should be used if chromosomes are not successful.
Panel includes testing for the following anomalies via the probes listed:
-5/5q-,/EGR1/D5S630
-7/7q-, D7S486/Cen7
+8, Cen8/c-MYC
13q-, D13S319/LAMP1
20q-, 20qter/D20S108
 inv(3), RPN1/MECOM
Please indicate if you would like us to run the entire panel.  This is suggested for patients with a new diagnosis.  If patient is being tracked for known anomalies, please indicate which anomalies need to be investigated.
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Plasma Cell Proliferative Disorder (PCPD)
Testing for Multiple Myeloma, intended for diagnosis only.  Fresh bone marrow specimen is required.
Panel includes testing for the following anomalies via the probes listed:
-13/13q-, Rb1/LAMP1
t(11;14), CCND1/IGH
t(14;var), IGH
17p-, TP53/Cen17
+3/+7, Cen3/Cen7
+9/+15, Cen9/Cen15
t(4;14) IGH reflex, FGFR3/IGH
t(14;16) IGH reflex, IGH/MAF
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