|FISH Analysis - DiGeorge/Velocardiofacial Syndrome Type II (10p)
DiGeorge Syndrome 2 (DGS2) | Velocardiofacial Syndrome 2 (VCFS2)
||Confirmation of Clinical Diagnosis, Carrier Testing
Patients with clinical features suggestive of DiGeorge syndrome or VCFS may be tested for deletions of 10p13p14 and 22q11.2 simultaneously. If a deletion of 22q has already been ruled out and DiGeorge syndrome is still suspected, testing for the 10p |
For initial screening we recommend CMA - HR (#8655). DiGeorge/Velocardiofacial Syndrome (22q and 10p) FISH Panel (#8440) and DiGeorge/Velocardiofacial Syndrome Type I (22q) FISH (8486) are also available.
FISH analysis is indicated on the parents of an affected child since approximately 6% of affected probands will have inherited the deletion from a parent.
||Fluorescent in Situ Hybridization (FISH) Analysis