Tests Offered

Cytogenetics Laboratory

Chromosome Analysis

FISH

Hematology FISH

  • FISH Panel – Pediatric Pre-B ALL:
    • 11q23 (KMT2a, aka MLL); t(12;21) (ETV6/RUNX1); +4,+10,+17 (Hyperdiploidy); t(1;19) (TCF3/PBX1); 9p-, +9 (p16/CDKN2A); t(9;22) (BCR/ABL)
  • FISH Panel – Lymphoma:
    • t(14;18) (BCL2/IGH); t(11;14) (CCND1/IGH); t(8;14) (c-MYC/IGH)
  • FISH Panel – Chronic Lymphocytic Leukemia:
    • 11q-; 17p-; -13/13q-; +12
  • FISH Panel – Myelodysplastic Syndrome:
    • -5/5q-; +8; 20q-; -7/7q-; 17p-
  • FISH Panel – Myeloma:
    • t(11;14) (CCND1/IGH); -13/13q – (D13S319, LAMP1); 17p – (p53); +3,+7,+11 (Hyperdiploidy); 1q21*; t(14;16) (IGH/MAF) reflexed; t(4;14) (FGFR3/IGH) reflexed; t(14;20)(IGH/MAFB)* reflexed
  • FISH Panel – Acute Myeloid Leukemia:
    • t(8;21) (RUNX1T1/RUNX1); 11q23 (KMT2A, aka MLL); inv(16) (CBFB/MYH11); t(15;17) (PML/RARa) (if suspected); t(6;9) (DEK/NUP214); inv(3) (RPN1/EVI1); -5/5q-; -7/7q-; +8; 17p – (p53)
  • FISH – Other (Hypereosinophilia Panel):
    • 4q12 deletion (CHIC2/FIP1L1-PDGFRA); 5q32-q33 (PDGFRB)*; 8p11.2 deletion (FGFR1);
  • FISH – Other:
    • 12p13 (ETV6); 13q-
  • FISH – X, Y

Constitutional FISH

  • FISH – Prader Willi/Angelman Syndrome (15q11-q13)
  • FISH – 22q11.2 Deletion Syndrome/Velocardiofacial Syndrome/DiGeorge Syndrome (22q11.2)
  • FISH – X, Y
  • FISH – X, SRY
  • FISH – Williams Syndrome (7q11.23)

Prenatal FISH

Oncology FISH (Paraffin)

  • FISH – Glioma (1p19q)
  • FISH – c-MYC*
  • FISH – IGH/MYC*
  • FISH – BCL2*
  • FISH – BCL6*

Microarray Analysis

  • Microarray – Prenatal*
  • Microarray – Postnatal*
  • Microarray – Oncology (paraffin)*
  • Microarray – Hematology/Oncology*
  • Microarray – Products of Conception*

Note: All tests that are bolded and have an * are currently being sent out by the CHG laboratory.

Molecular Diagnostics Laboratory

Cystic Fibrosis

Old Order Amish

Hearing Loss Panel

Metabolic disorders

Thrombosis panel

Familial Cancer syndromes

Hematology/Oncology

Prenatal Screening Laboratory

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