Smith-Magenis/Potocki-Lupski Syndromes, 17p11.2 Deletion/Duplication, FISH
NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.
Aids in the diagnosis of 17p11.2 deletion (Smith-Magenis) and 17p11.2 duplication (Potocki-Lupski) syndromes, in conjunction with CMS / Chromosome Analysis, for Congenital Disorders, Blood
Detecting cryptic translocations involving 17p11.2, including the RAI1 critical region, 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
Fluorescence In Situ Hybridization (FISH)
Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name
17p11.2 Deletion/Duplication, FISH