HIRA FISH
del 22q microdeletion
dup22q micro duplication
Di George
VCSF, Velo cardial facial syndrome
436.73
Includes culture processing charge.
4 ml Heparin (Dark green) Whole blood sterile
1 ml Heparin (Dark green) Whole blood sterile
Ambient on day of collection. Refrigerate overnight or weekend then send ambient.
Cytogenetics
Urgent 5 days, Non-urgent 18 days
Flourescence in situ hybridisation (FISH) with HIRA and ARSA specific probes to identify and characterise 22q11.2 and 22q13 chromosome micro deletions and duplications.
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.
1 ml Heparin (Dark green) Whole blood sterile
FHIRA
$FHIRA
