Test Name
Williams Syndrome deletion 7q11.2*
Test Code
F WIL
Synonyms
del(7)(q11.23)
Associations
Williams Syndrome, WBS, Williams-Beuren Syndrome
CPT Codes
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; Improper fixative
Description
Williams syndrome is a rare genetic disorder found in approximately 1 in 7,500-20,000 people. A deletion on chromosome 7 is the cause for the disorder. This region includes several genes that most likely contribute to the characteristic features. Usually
References
Elçioglu N et al. (1998). FISH analysis in patients with clinical diagnosis of Williams syndrome. Acta Paediatr. 87(1):48-53.
