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Test Catalog

Test ID: CAT22    
22q11.2 Deletion/Duplication, FISH

NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.


Useful For Suggests clinical disorders or settings where the test may be helpful

Aids in the diagnosis of 22q deletion/duplication syndromes, in conjunction with CMS/8696 Chromosome Analysis, for Congenital Disorders, Blood


Detecting cryptic translocations involving 22q11.2 that are not demonstrated by conventional chromosome studies

Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test

Method Name A short description of the method used to perform the test

Fluorescence In Situ Hybridization (FISH)

Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name

22q11.2 Deletion/Duplication, FISH

Aliases Lists additional common names for a test, as an aid in searching

22q Deletion Syndrome
22q Duplication Syndrome
DiGeorge Syndrome
Velo-Cardio-Facial Syndrome