Cytogenetics and FISH Laboratories

The Cytogenetics Laboratory was founded in 1961 and is one of the oldest clinical genetics labs in the nation. The Cytogenetics and Fluorencence in situ Hybridization (FISH) laboratories offer a comprehensive test menu including the following:

  • Cytogenetic analysis (karyotyping) of amniotic fluid, CVS, products of conception, tissue, and peripheral blood for constitutional testing.
  • Cytogenetic analysis of blood, bone marrow, and fresh tumor tissue for neoplastic disorders.
  • FISH analysis of amniotic fluid, CVS, products of conception, and peripheral blood for trisomies 13, 18, and 21, sex chromosome aneuploidy, and/or select chromosome microdeletions.
  • FISH analysis of blood, bone marrow, and/or FFPE specimens with probes for more than 40 individual abnormalities and seven probe panels. Please contact the lab to confirm that the desired probe or panel is available for a specific specimen type.
  • FISH panel menu for cancer specimens:
    • Acute Myeloid Leukemia (AML)
      5q, 7q, and 20q deletions, trisomy 8, RUNX1T1::RUNX1 and CBFB::MYH11 gene fusions, KMT2A gene rearrangement
    • Acute Lymphocytic Leukemia, B-cell (ALL)
      Trisomy 4, 10, and 17 (hyperdiploidy), PBX1::TCF3, BCR::ABL1, and ETV6::RUNX1 gene fusions, ABL2, ABL1, PDGFRB, and KMT2A gene rearrangements
    • Chronic Lymphocytic Leukemia (CLL)
      ATM and TP53 gene deletions, trisomy 12, and 13q deletion or monosomy 13
    • Eosinophilia
      FGFR1 gene deletion, PDGFRB gene disruption, BCR::ABL1, CBFB::MYH11 and FIP1L1::PDGFRA gene fusions
    • Lymphoma
      BCL6, MYC, and BCL2 gene rearrangements and IGH::MYC gene fusion
    • Multiple Myeloma
      1p loss, 1q gain, trisomy 5, 9, 11, 12, and 15 (hyperdiploidy), 13q deletion or monosomy 13, IGH gene rearrangement, and TP53 gene deletion