Cancer Cytogenetics Test List

In addition to routine chromosome studies, the Center for Human Genetics offers the following cancer cytogenetic FISH panels:

FISH Panels

Acute Myeloid Leukemia (AML)
Gene specific probe loci Structural Chromosome Abnormality AML subtype
ETO/AML1 t(8;21)(q22;q22) M2
PML/RARA t(15;17)(q22;q21) M3
CBFbeta inv(16);t(16;16) M4, Eos
Cen8/MYC +8 (Trisomy 8) M0-M7
DEK/CAN t(6;9)(p23;q34) M2, M4, M1
EVI1 3q26 rearrangements M1, 2, 4, 6, 7
MLL 11q23 rearrangements M0-M7
B-Cell Acute Lymphoblastic Leukemia (B-ALL)
Gene specific probe loci Structural Chromosome Abnormality
TEL/AML1 t(12;21)(p13;q22)
BCR/ABL/ASS t(9;22)(q34;q11.2)
PBX1/TCF3 t(1;19)(q23;p13.3)
CDKN2A/CEN9 del(9)(p21)
4cen +4 (Trisomy 4)
10cen +10 (Trisomy 10)
17cen +17 (Trisomy 17)
MLL 11q23 rearrangements
Chronic Lymphocytic Leukemia (CLL)
Gene specific probe loci Structural Chromosome Abnormality
c-MYB/6cen -6/6q deletion
ATM/11cen -11/11q deletion
12 cen +12 (Trisomy 12)
D13S319/LAMP1 -13/13q deletion
p53/17cen -17/17p deletion
CCND1/IGH t(11;14)(q13;q32)
Chronic Myelogenous Leukemia (CML)
Gene specific probe loci Structural Chromosome Abnormality
BCR/ABL/ASS t(9;22)(q34;q11.2)
Chronic myelomonocytic leukemia (CMML)
Gene specific probe loci Structural Chromosome Abnormality
EGR1/D5S23,D5S721 -5/5q deletion
D7S486/7cen del(7)(q31)
Cen8/MYC +8 (Trisomy 8)
BCR/ABL/ASS t(9;22)(q34;q11.2)
D20S108/D20S150 20q12 deletion
Imatinib Mesylate (Gleevec) Responsive Genes
Gene specific probe loci Structural Chromosome Abnormality
PDGFRB 5q32-q33
FLP1L1/PDGFRA 4q12
BCR/ABL/ASS t(9;22)(q34;q11.2)
Lymphoma
Gene specific probe loci Structural Chromosome Abnormality
MYC 8q24 rearrangements
MYC/IGH/CEP8 t(8;14)(q24;q32)
BCL2/IGH t(14;18)(q32;q21)
BCL6 3q27 rearrangements
CCND1/IGH t(11;14)(q13;q32)
MALT1 18q21 rearrangements
*MALT1/IGH t(14;18)(q32;q21)

*MALT reflex if ordered

Multiple Myeloma (MM) and Plasma Cell Proliferative disorders (PCPD)
Gene specific probe loci Structural Chromosome Abnormality
IGH 14q32 rearrangements
CCND1/IGH t(11;14)(q13;q32)
p53/17cen -17/17p deletion
RB1/LAMP1 -13/13q deletion
9cen/15cen +9 and +15
cen/7cen +3 and +7
Myelodysplastic Syndrome (MDS)
Gene specific probe loci Structural Chromosome Abnormality
EGR1/D5S23,D5S721 -5/5q deletion
7cen/D7S486  -7/7q deletion
8cen/MYC  +8 (Trisomy 8)
D13S319/LAMP1  -13/13qdeletion
D20S108/20qter  -20/20q deletion/idic(20q)
EVI1 3q26 rearrangements
Other Hematologic Tests
Gene specific probe loci Structural Chromosome Abnormality
MYB 6q23
MYC 8q24 rearrangements
p53 17p13 deletion
FLP1-L1/PDGFRA 4q12 rearrangements/tri-color rearrangements
Sex mismatched bone marrow transplant
Other gene/locus chromosome anomalies (please specify)
BCR/ABL/ASS t(9;22)(q34;q11.2)
MLL 11q23 rearrangements