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/8696 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
17p Duplication
17p11.2
17p11.2 Duplication
Potocki
Potocki-Lupski
RAI1
Smith-Magenis Syndrome
SMS


