Cri-du-Chat Syndrome
Test Code
F CAT
Test Synonyms
del(5)(p15.2), deletion 5p15.2
Associations
5p- syndrome, Cat cry syndrome
Methodology
Fluorescence in situ Hybridization (FISH)
CPT Codes
88368x2
Turnaround Time
7-10 days
Specimen Requirements
- 5.0 mL (min. 3.0 mL) whole blood, sodium heparin
- 20-30 mL amniotic fluid, 2 to 3 sterile tubes Specimen volume includes chromosome analysis.
Specimen Stability
72 hours at 18-25°C
Storage & Handling
Protect from extreme temperature. Ship on Saturday for Monday delivery only if sample is protected from extreme temperature.
Causes for Rejection
Clotted specimen; Specimen exposed to extreme temperature; Anticoagulant toxic to cells; Insufficient number of cells
Reference Range
See report
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 backgrounds and is slightly more common in females.
References
- Cerruti Mainardi P. (2006). Cri du Chat syndrome. Orphanet J Rare Dis. Sep 5;1:33.
