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Cri-du-Chat / SOTOS Syndrome by FISH*

Test Code

F Del5p*

Test Synonyms

del(5)(p15.2), deletion 5p15.2

Associations

5p- syndrome, Cat cry syndrome

Methodology

Fluorescence in situ Hybridization (FISH)
*performed by affiliate laboratory

Turnaround Time

7-10 days

Specimen Requirements

5.0 mL (min. 3.0 mL) whole blood, sodium heparin

Specimen Stability
Stable at 4-25°C for 72 hours.
Storage & Handling

Protect from extreme temperature. Ship with cool pack (refrigerated). 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

It is recommended that all FISH studies be done in conjunction with routine cytogenetic studies. If the FISH result is normal, a chromosome analysis allows identification of more complex abnormalities.

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
  1. Cerruti Mainardi P. (2006). Cri du Chat syndrome. Orphanet J Rare Dis. Sep 5;1:33.