Institute of Genomic Medicine
Cytogenetic Tests Available
CHROMOSOME ANALYSIS
- Chromosome analysis is available on Amniotic fluid, peripheral blood, Product of Conception, Fibroblast cells, Bone Marrow, Lymph Node and Solid Tumors
- Routine (all samples)
- Abnormal Sexual Development
- Leukemias and Lymphomas
FLUORESCENT IN SITU HYBRIDIZATION (FISH)
- FISH analysis is available on Amniotic fluid, peripheral blood, Product of Conception, Fibroblast cells, Bone Marrow, Lymph Node, Solid Tumors and Paraffin embedded Tissue.
Microdeletion Probe (for research use only)
SYNDROME |
CHROMOSOME LOCATION |
1p Deletion |
LSI 1p58 |
Wolf Hirschhorn |
4p16.1 |
Cri-du-Chat |
5p15.2 |
Williams |
7q11.23 |
Angelman |
15q11-q13 |
Prader-Willi |
15q11-q13 |
Miller Dieker |
17p13.3 |
Smith Magenis |
17p11.2 |
DiGeorge |
22q11.2 |
Steroid Sulfatase, |
Xp22.3 |
Kallman |
Xp22.3 |
Male Determining Factor |
Yp11.3 |
PRENATAL/NEONATAL PROBE
Prenatal/Neonatal Probes |
AneuVysion Kit (X/Y/13/18/21) |
Trisomy 13 (RB1), 13q14 |
Trisomy 18 (D18Z1), 18cen |
Trisomy 21 (LSI 21), 21q22.2 |
Sex Determination, CEPX/CEPY |
HEMATOLOGIC DISORDERS, Most Commonly Associated Diseases
Myelodysplastic Syndrome (MDS) and/ or Secondary Acute Myeloid Leukemia (AML) |
EGR1, 5q31 deletion |
EGFR, 7p12 deletion |
D7S486, 7q31 deletion |
CEP 8, trisomy 8 |
D20S108, 20q12deletion |
tp53, 17p13.1 |
Acute Myeloid Leukemia (AML) |
RUNX1T1/RUNX1, t( 8:21 )(q22;q22) (M2) |
KMT2A (MLL) BA, 11q23 rearrangement (M5) |
CBFB BA, 16q22 inversion |
RARA BA, 17q21 rearrangement (M3) |
Chronic Myeloid Leukemia (CML) |
BCR/ABL df, t( 9:22 )(q34;q11.2) |
Acute Lymphoblastic Leukemia (ALL) B-Cell |
CDKN2A, 9p21 deletion |
BCR/ABL df, t( 9:22 )(q34;q11.2) |
KMT2A (MLL) BA, 11q23 rearrangement |
ETV6/RUNX1, t( 12:21 )(p13;q22) |
Acute Lymphoblastic Leukemia (ALL) T-Cell |
ABL amplification, BCR/ABL df |
CDKN2A, 9p21 deletion |
Multiple Myeloma (MM) |
1q21/8p21 gain/deletion |
Trisomy 5p15.2, 9cen, 15cen |
D13S319, 13q14.3 deletion |
RB1, 13q14 deletion |
TP53, 17p13.1 deletion |
CCND1/IGH, t( 11:14 ) |
IGH BA, 14q32.3 |
Subtypes : IGH/MAF, t(14;16) |
FGFR3/IGH, t(4;14) |
Chronic Lymphocytic Leukemia (CLL) |
ATM, 11q22 deletion |
CEP 12, trisomy 12 |
D13S319, 13q14.3/13q34 deletion |
TP53, 17p13.1 deletion |
MYB/CEP6, 6q22-23 deletion |
B-Cell Lymphoma |
8q24-q24.3 |
MYC BA, 8q24 |
IgH BA, 14q32.3 |
MALT1 BA, 18q21 |
BCL2 BA, 18q21 |
Subtypes: t(8;14) Burkett |
t(11;14) Mantle Cell |
t(11;18) Malt/ Marginal Zone |
t(14;18) Follicular |
Anaplastic Large Cell Lymphoma |
ALK BA, 2p23 ALCL |
SOLID TUMORS, Most Commonly Associated Diseases |
EWSR1 BA, 22q12 Ewing’s Sarcoma |
MYCN, 2p23-24 Neuroblastoma |
FOXO1 BA, 13q14 Rhabdomyosarcoma |
SS18 BA, 18q11.2 Synovial Sarcoma |
RB1, 13q14 deletion Retinoblastoma |
Cyclin D1, 11q13 head, neck & breast cancer |
DDIT3 BA, 12q13 Myxoid Liposarcoma |
FUS BA, 16p11 LGFMS & MLS |
TP53, 17p13.1 Li-Fraumeni syndrome |
ALK BA, 2p23 Inf. Myofibroblastic |
Her2neu, PathVysion, 17q11.2 Breast Cancer |
TFE3 BA, Xp11 |
Endometrial Cancer |
ROS1 BA, 6q21.1-22.3 NSCLC |
MET, 7q31.2 NSCLC |
RET BA, 10q11.21 NSCLC |
P36/1q25 &19q13/19p13 Brain Tumor |
