ELN FISH
del 7q11.23 micro deletion FISH
Elastin
Williams Syndrome
436.73
Includes culture processing charge.
4 ml Heparin (Dark green) Whole blood sterile
1 ml Heparin (Dark green) Whole blood sterile
Cytogenetics
Urgent < 5 days, Non-urgent 18 days
Flourescence in situ hybridisation (FISH) with an ELN specific probe to identify and characterise 7q11.23 chromosome microdeletion associated with Williams syndrome.
Refer to report
The test is useful when the diagnosis is firm and/or urgency is required. Otherwise, microarray testing which detects all currently known microdeletion/duplication syndromes in one assay, is the preferred test in most cases.
1ml Heparin Whole blood sterile
FELN
$FELN