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

High Resolution Banding on Peripheral blood

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

SYNDROME     CHROMOSOME LOCATION   

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 Determing Factor Yp11.3                                  

In addition we can analyze any or all individual subtelemeric regions.               

PRENATAL/NEONATAL PROBE

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   

MultiVysion-Product of Conception: Chromosomes 13, 16, 18, 21, 22, X, Y

CANCER PROBE

CEPX/CEPY BM transplant

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

Acute Myeloid Leukemia (AML)

ETO/AML, t( 8:21 )(q22;q22) (M2)   

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

Triple Trisomy, 4, 10, 17   

MYB/CEP6, 6q22-23 deletion   

LSI 16, 9p21 deletion   

BCR/ABL df, t( 9:22 )(q34;q11.2)

MLL BA, 11q23 rearrangement   

TEL/AML1, t( 12:21 )(p13;q22)

Acute Lymphoblastic Leukemia (ALL) T-Cell

ABL amplification, BCR/ABL es   

LSI 16, 9p21 deletion

Multiple Myeloma (MM)

Trisomy 5p15.2, 9cen, 15cen   

D13S319, 13q14.3 deletion   

RB1, 13q14 deletion

p53, 17p13.1 deletion   

CCND1/IGH, t( 11:14 )

Subtypes : IGH/MAF, t(14;16)   

FGFR3/IGH,t(4;14)

Chronic Lymphocytic Leukemia (CLL)

ATM, 11q22     

MLL BA, 11q23 rearrangement   

CEP 12, trisomy 12   

D13S319, 13q14.3 deletion   

13q34 deletion   

p53, 17p13.1 deletion

B-Cell Lymphoma

c-MYC, 8q24-q24.3

MYC BA, 8q24

IgH BA, 14q32.3     

MALT1 BA, 18q21   

BCL2 BA, 18q21

Subtypes: t(8;14) Burkitt     

                  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

EWS BA, 22q12 Ewing 's Sarcoma   

N-MYC, 2p23-24 Neuroblastoma   

FKHR BA, 13q14 Rhabdomyosarcoma   

SYT BA, 18q11.2 Synovial Sarcoma

RB1, 13q14 deletion Retinoblastoma   

Cyclin D1, 11q13 head, neck & breast cancer

CHOP BA, 12q13 Myxoid Liposarcoma

FUS BA, 16p11 LGFMS & MLS   

p53, 17p13.1 Li-Fraumeni syndrome

ALK BA, 2p23 Inf. Myofibroblastic