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FISH may be performed on either chromosomes or interphase nuclei in cultured or uncultured cells from amniotic fluid, chorionic villi, bone marrow, peripheral blood and fibroblasts. Full information regarding the FISH assay requested must be indicated on the requisition form. Please call the Cytogenetics Lab at (314) 454-8101 if you have any questions.

Available Tests

Angelman syndrome [D15S10 locus]
  Deletions of the D15S10 locus within band 15q11-13.
Autism, Pervasive Developmental Disorders [GABRB3 locus]
  Duplications of the GABRB3 locus within band 15q11-13.
Cancer Cytogenetics
  AML1/ETO: t(8;21)(q24:q22)
bcr/abl rearrangements: CML, ALL, t(9;22)
CEP4, CEP8, CEP10 and CEP12(trisomies of chromosomes 4, 8, 10, and 12)
LSI/CBFB: inv(16), t(16;16)
Microdeletions of 13q
MLL: 11q23 rearrangements
p53 gene deletions
PML/RARA: APL; t(15;17)
Rara gene rearrangements
Tel/AML: t(12;21)
DiGeorge, velocardiofacial, conotruncal CHD, CATCH-22 [Tuple-1 gene]
  Deletions of the Tuple-1 gene within band 22q11.2.
Miller-Dieker syndrome [ LIS1 gene ]
  Deletions of the LIS1 locus within band 17p13.3.
Postnatal interphase cytogenetics (Aneuscreen test)
  Identification of trisomies 13, 18, and 21 and gender identification.
Cautionary note: The results must be confirmed by cytogenetic analysis (GTW banding).
Prader Willi syndrome [SNRPN gene]
  Deletions of the SNRPN gene within band 15q11-13.
Prenatal interphase cytogenetics (Aneuscreen test)
  FDA approved prenatal test to detect presence and copy number of chromosomes X, Y, 13, 18, 21. Amniotic fluid cells are procesed without cell culture for interphase analysis.
Cautionary note: No irreversible decisions should be made on the basis of this test result alone.
This test is always done in conjunction with a complete chromosome analysis that is reported separately.
Smith-Magenis Syndrome [D17S29 locus]
  Deletions of the D17S29 locus within band 17p11.2.
SRY (sex-determining gene of the Y chromosome)
  Chromosome Yp11.3 deletions of this gene or presence of the SRY gene in markers/other chromosomes.
Subtelomeric Rearrangements
  Detection of cryptic or submicroscopic abnormalities in the subtelomeric regions of all chromosomes.
Cautionary note: This test is only available for constitutional studies in peripheral blood
Williams syndrome, Supravalvular Aortic Stenosis [elastin gene]
  Deletions of the Elastin gene within band 7q11.2.
XX/XY [chromosomal sex/gender identification]
  This test can be used in peripheral blood samples for a fast determination of gender/chromosomal sex (XX in normal females, XY in normal males).
Cautionary note: A confirmatory result by a complete chromosome analysis is necessary.
XX/XY [opposite sex bone marrow transplantation tracking]
Other tests
  Contact the laboratory staff at (314) 362-2258 for inquiries.