Cytogenetic Tests Available
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 |