Test Name
Cri-du-Chat / SOTOS Syndrome*
Test Code
F Del5p
Synonyms
del(5)(p15.2), deletion 5p15.2
Associations
5p- syndrome, Cat cry syndrome
CPT Codes
88274, 88271x3, 88291, 88273
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
Cri-du-chat syndrome is a rare genetic condition caused by the deletion of genetic material on the small arm of chromosome 5. Cri-du-chat syndrome occurs in an estimated 1 in 20,000 to 50,000 newborns. This condition is found in people of all ethnic backg
References
- Cerruti Mainardi P. (2006). Cri du Chat syndrome. Orphanet J Rare Dis. Sep 5;1:33.
