Neoplasia Testing

Indications

These may include, but are not limited to:

  • Characterization or confirmation of neoplastic conditions
  • Determination of treatment
  • Confirmation of remission, relapse, and/or progression of the disease
  • Staging of the disease and monitoring the course of treatment
  • Information about prognosis
  • Histological information of extent and nature of solid tumors

Specimen types

Testing to detect cancer-related chromosomal and genomic abnormalities can be performed on:

  • Bone marrow
  • Bone core
  • Peripheral blood
  • Lymph nodes
  • Paracentesis ascitic fluid
  • Cerebrospinal fluid
  • Solid tumor tissue
  • Urine (bladder cancer)
  • Formalin-Fixed, Paraffin-Embedded (FFPE) tissue

See Sample Collection Instructions

Test types

Available testing options include:

  • G-banded chromosome analysis and karyotyping detects imbalances in the genome (aneuploidy, deletions, or duplications) at low resolution. This test can detect balanced rearrangements. This test can only be performed on fresh cells or tissue.
  • Neoplasia Genomic Microarray Analysis detects imbalances in the genome (copy number changes due to aneuploidy, deletions, or duplications) as well as copy neutral loss of heterozygosity (cnLOH) at high resolution. This test does not detect balanced rearrangements. This test can be performed on fresh cells or tissue, or on Formalin-Fixed Paraffin-Embedded (FFPE) tissue.
  • IFISH (interphase fluorescence in situ hybridization) using a variety of probes (see table below) to detect specific rearrangements associated with neoplastic diseases. This test can be performed on fresh cells or tissue, or on FFPE.
  • IFISH using the Urovysion probe panel to detect anomalies associated with bladder cancer. This test is performed on urine specimens.

Neoplasia IFISH test

Disease Chromosome abnormality Gene Included in Panel
AML t(8;21) RUNX1T1/RUNX1
t(15;17) PML/RARA
inv(16) CBFB
rea(11q23) MLL
+8    
-5 or del(5q) EGR1
-7 or del(7q)  
t(6;9) DEK/NUP214
t(9;22) BCR/ABL1/ASS1  
inv(3) RPN1/MECOM
del(17p) TP53  

MDS/MPD
 or
CMML

inv(3) RPN1/MECOM
-5 or del(5q) EGR1
-7 or del(7q)  
+8  
del(13q)  
del(20q)  
del(17p) TP53
B-cell Lymphoma rea(3q27) BCL6
rea(18q21) BCL2  
rea(8q24) MYC
t(11;14) CCND1/IGH
t(11;18) BIRC3/MALT1
t(14;18) IGH/BCL2
t(8;14) MYC/IGH
t(14;18) (MALT) IGH/MALT1  
rea(14q32) IGH  
abn(1p/1q) CDKN2C/CKS1B  
T-cell Lymphoma
 or
Hepatosplenic T-cell PLL
rea(7q34) TRB  
rea(14q11) TRA/D  
i(7q)    
rea(14q32) TCL1A  
Eosinophilia rea(4q12) SCFD2/LNX/PDGFRA/KIT
rea(5q32) PDGFRB
rea(8p12) FGFR1
inv(16) CBFB
CLL
 or
SLL
del(6q) MYB
del(11q) ATM
t(11;14) CCND1/IGH
+12  
del(13q)  
del(17p) TP53
Multiple Myeloma t(4;14) FGFR3/IGH
t(11;14) CCND1/ IGH Reflex, if indicated
t(14;16) IGH/MAF
del(13q)  
del(17p) TP53
rea(14q32) IGH Reflex, if indicated
abn(1p/1q) CDKN2C/CKS1B
Bladder cancer Extra copies of 3, 7, 17; del(9p21) CDNK2A  
T-cell ALL rea(7q34) TRB
rea(14q11) TRA/D
del(9p) CDKN2A
rea(11q23) MLL
Adult B-cell ALL del(9p) CDKN2A
t(1;19) PBX1/TCF3
t(9;22) BCR/ABL1/ASS1
rea(11q32) MLL
rea(14q32) IGH
del(17p) TP53
Childhood ALL t(1;19) PBX1/TCF3
t(9;22) BCR/ABL1
rea(11q23) MLL
t(12;21) ETV6/RUNX1
rea(12p13) ETV6
+4  
+10  
Lung cancer rea(2p23) ALK  
rea(6q22) ROS1  
rea(7p12) EGFR  
Sarcoma (Ewing) rea(22q12) EWSR1  
Sarcoma (synovial) rea(18q11) SS18  
Sarcoma (osteo) 12q14.5-q15 ampli MDM2  
Sarcoma (other soft tissue) 12q14.5-q15 ampli MDM2  
Rhabdomyosarcoma rea(13q14) FOXO1  
Myxoid liposarcoma rea(16p11) FUS  
Myxoid & RC liposarcoma 12q13 DDIT3  
Breast cancer 17q ampli ERBB2  
Renal cell carcinoma rea(Xp11) TFE3  
Glioblastoma del(1p)(19q)  
del(10q23) PTEN
7p12 ampli EGFR
del(9p21) CDKN2A
Aneurysmal Bone Cyst or Nodular Fasciitis rea(17p13) USP6