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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