Test Name
Smith-Magenis Syndrome deletion 17p11.2*
Test Code
F SMS
Synonyms
del(17)(p11.2), RAI1 gene, microdeletion syndrome
Associations
Deletion of chromosome 17p11.2
CPT Codes
88273x1, 88274x1, 88271x2, 88291x1
Turnaround Time
9
Specimen Requirements
5mL peripheral blood in sodium heparin Fixed cytogenetically prepared cells in sterile centrifuge tube with pellet visible in 3:1, Methanol:Acetic Acid
Specimen Stability
Blood = 4°C to 25°C, specimens are stable up to 72 hours Fixed cell pellets are stable for years when stored at -28°C to -15°C
Storage & Handling
4°C to 25°C during transit, but specimens may be transported on refrigerated gel packs. Do not allow the gel pack to come in contact with the specimen. Do not freeze. Extreme temperatures should be avoided.
Causes for Rejections
Clotted specimen; Specimen exposed to extreme temperature; Anticoagulant toxic to cells; Insufficient number of cells
Description
Smith-Magenis Syndrome, causing deletion of the short arm of chromosome 17, affects 1 in 15,000 to 1 in 25,000 individuals
References
- Elsea SH, Girirajan S. (2008). Smith-Magenis syndrome Eur J Hum Genet. 16(4):412-21.
- Gropman AL et al. (2007). New developments in Smith-Magenis syndrome (del 17p11.2). Curr Opin Neurol. 20(2):125-34.
