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