Test Name
Prader-Willi Syndrome deletion 15q11*
Test Code
F PWS
Synonyms
del(15)(q11.2q13), Microdeletion syndrome
Associations
deletion 15q11
CPT Codes
88274x1, 88271x3, 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
Prader-Willi syndrome (PWS), a rare neurogenetic disorder, represents the most common syndromatic obesity. Loss of the paternal genes on a specific region of chromosome 15 is the cause of this syndrome. Either two copies of the maternal genes is inherited
References
- Bittel DC, Butler MG. (2005). Prader-Willi syndrome: clinical genetics, cytogenetics and molecular biology. Expert Rev Mol Med.7(14):1-20.
- Borelina D et al. (2004). Combined cytogenetic and molecular analyses for the diagnosis of Prader-Willi/Angelman syndromes. J Biochem Mol Biol. 37(5):522-6.
