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Test ID: FSMS    
Smith-Magenis/Potocki-Lupski Syndromes, 17p11.2 Deletion/Duplication, FISH

Secondary ID A test code used for billing and in test definitions created prior to November 2011

88534

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

Yes

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

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

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

17p11.2 Deletion/Duplication, FISH

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

17p Deletion
17p Duplication
17p11.2
17p11.2 Duplication
Potocki
Potocki-Lupski
RAI1
Smith-Magenis Syndrome
SMS