Cancer Testing

Washington University’s Cytogenetics and Molecular Pathology Laboratory processes a variety of tissue specimens for the diagnosis and monitoring of many types of cancer.

We offer chromosome analysis, FISH and FFPE FISH to detect translocations, deletions, duplications, amplifications, and to monitor the status of bone marrow transplants. We correlate the histology with FISH testing utilizing customized as well as standardized probes to assess specific genetic loci that may assist in:

  • Diagnosis of disease (e.g. IGH-CCND1, IGH-BCL2)
  • Prognosis of disease (e.g. c-MYC, n-MYC, BCR-ABL, 1p/19q)
  • Minimal residual disease (e.g. XY chimerism)
  • Targetable drug therapy (e.g. EGFR. RET, ROS1, ALK, HER2)


Chromosome Analysis

Summary Detects aneuploidy and large rearrangements, deletions, inversions
Specimen types Bone core, bone marrow aspirate, lymph node, peripheral blood, solid tumor, tissue biopsy
Turnaround times  14-21 days

Fluorescence In-Situ Hybridization

Summary Detects aneuploidy, rearrangements, deletions and inversions associated with hematologic malignancies
Specimen types Bone core, bone marrow aspirate, lymph node, peripheral blood
Specific tests offered Acute Myeloid Leukemia (CBFB, CEP8, D7S486, EGR1, EVI, MLL, PML/RARA, RARA, RUNX1/RUNX1T1)

B-cell Acute Lymphoblastic Leukemia (BCR/ABL, CDKN2A, CEP4/10/17, ETV6/RUNX1, IGH, MLL, TCF3)

T-cell Acute Lymphoblastic Leukemia (CDKN2A, MYC, TCR, TRB)

Chronic Lymphocytic Leukemia (ATM, BCL2, BCL6, CCND1/IGH, CEP12, D13S319, MYB, TP53)

Chronic Myleogeneous Leukemia/Myeloproliferative Disorder (BCR/ABL1, FIP1L1/PDGFRA)

Chronic Myelomonocytic Leukemia (PDGFRB)

Myelodysplastic Disorder (CEP8, D7S486, D13S319, D20S108, EGR1, ETV6)

Multiple Myeloma (CCND1/IGH, CKS1B/CDKN2C, D13S319, FGFR3/IGH, IGH/MAP, TP53)

Lymphoma (BCL6, IGH, MYC)

Anaplastic Large Cell Lymphoma (ALK)

Burkitt’s Lymphoma (CCND1/IGH, MYC)

Diffuse Large Cell Lymphoma (IGH/BCL2)


Mantle Cell Lymphoma (CCND1/IGH)

Small Cell Leukemia-Lymphoma (FGFR1)

Turnaround times 24-72 hours

FFPE Fluorescence In-Situ Hybridization

Summary Detects rearrangements, amplifications and deletions associated with solid tumors and hematologic malignancies
Specimen types FFPE slides derived from solid tumors and tissue biospies
Specific tests offered Breast Cancer (HER2)

Lung Cancer (ALK, EGFR, FGFR1, MET, RET, ROS1)

Neuropathologic Malignancies (BRAF, CDKN2A, EGFR, HER2, MYC, MYCN, PTEN, 1p/9q, 1p/14q, 22q)

Sarcomas (DDIT3, EWSR1, FOXO1, FUS, SS18)

Hematologic Malignancies (ALK, BCL6, BCR/ABL, BIRC3/MALT, IGH, IGH/BCL2, IGH/CCND1, MLL, MYC)

Turnaround times 3-5 days