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
Whole blood is required for genetic testing; please do not centrifuge blood tubes.
Rapid prenatal 22q FISH can be performed on uncultured cells. For this please send amniotic fluid (3ml minimum) or chorionic villus tissue (5mg minimum).
Do not refrigerate or freeze.
Ambient (8 - 24 degrees Celsius)
Comment on report
Comment on report
Metaphase FISH - fluorescently-labelled DNA probes specific to a gene or region of interest are applied and hybridised to standard cytogenetic preparations on glass slides. Probe signals are visualised on chromosomes 'in situ' by fluorescent microscopy to determine copy number and relative location of the region of interest.
Rapid interphase FISH - fluorescently-labelled DNA probes specific to a gene or region of interest are applied and hybridised to uncultured cells fixed to glass slides. Probe signals are visualised in nuclei only by fluorescent microscopy to determine copy number of the region of interest.
Depending on the application, FISH is performed using metaphase chromosomes (cultured cells only) or interphase nuclei (uncultured or cultured).
$565.53 (Exclusive of GST)
Urgent testing by arrangement. Urgent turnaround time 5 days.
"*" indicates required fields