Example of FISH being used for clinical
genetic diagnosis Fluorescence in-situ hybridisation (FISH) analysis is
performed on metaphase chromosome preparations from all
cultured sample types.
FISH with locus-specific probes is available to detect
the microdeletions associated with the following disorders:
-
1p36.3 deletion syndrome
-
Wolf-Hirschhorn syndrome (deletion 4p)
-
cri du chat syndrome (deletion 5p)
-
Williams syndrome (deletion 7q11.2)
-
retinoblastoma gene deletion (deletion 13q14)
-
Miller-Dieker syndrome (deletion 17p13.3)
-
Smith-Magenis syndrome (deletion 17p11.2)
-
neurofibromatosis type 1 deletion (deletion 17q11.2)
-
22q11 deletions (DiGeorge syndrome, Velocardialfacial
syndrome) (deletion 22q11.2)
-
steroid sulfatase gene deletion (deletion Xp22.3)
-
Kallmann’s syndrome (deletion Xp22.3).
FISH analysis with chromosome-specific centromeric probes
and whole-chromosome paints is available to help characterise
chromosomal abnormalities.
Genome-wide locus-specific FISH tests are also available
on a research basis – Please contact the laboratory
for details. |
