FISH – 22q11 Deletion Syndromes, Blood

Diagnostic Use

Fluorescence in situ hybridisation (FISH) using locus-specific probes are applied to identify and confirm a diagnosis of both 22q11 deletion and 22q13 deletion syndromes.
The test should be requested when the clinical diagnosis is firm, when urgency is required or for family follow-up studies of a known 22q11 (or 22q13) deletion. Otherwise, microarray testing is the preferred test in most cases, as it detects all currently known microdeletion syndromes in one assay. See microarray for further information


Genetics - Cytogenetics

Delphic Registration Code



22q11 microdeletion
DiGeorge Syndrome

Turnaround Time

18 days

Test Code