Cytogenetics Laboratory Tests

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 –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 Test Performed

Cystic Fibrosis

Old Order Amish

Metabolic disorders

Thrombosis panel

Familial Cancer syndromes

Hematology/Oncology

Prenatal Screening Laboratory