Laboratory Test Reference Guide

Laboratory Information

Test Name

HIRA FISH

Synonyms

del 22q microdeletion
dup22q micro duplication
Di George
VCSF, Velo cardial facial syndrome

External Price (excl. GST)

436.73

Price Comment

Includes culture processing charge.

Specimen Collection

Adult Specimen

4 ml Heparin (Dark green) Whole blood sterile

Paediatric Specimen

1 ml Heparin (Dark green) Whole blood sterile

Test Information

Department

Cytogenetics

Laboratory Turnaround Time

Urgent 5 days, Non-urgent 18 days

Method

Flourescence in situ hybridisation (FISH) with HIRA and ARSA specific probes to identify and characterise 22q11.2 and 22q13 chromosome micro deletions and duplications.

Uncertainty of measurement

Refer to report

Diagnostic Use Or Instructions

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.

Minimum Volume

1 ml Heparin (Dark green) Whole blood sterile

Electronic Information

Registration Code

FHIRA

HL7 mapping code

$FHIRA