Individuals affected with Cri-du-chat are characterized by dysmorphic facial features, microcephaly, growth deficiency, mental retardation, speech delay and a characteristic “cat-like” cry due to a deletion on chromosome 5p.
- Peripheral blood Collect whole blood in a green top tube (sodium heparin). Label tube with patient’s name and date of birth.
FISH analysis is performed following cytogenetic analysis
Room temperature (DO NOT refrigerate, freeze or centrifuge)
A completed test requisition form must be included with every sample. A transport kit is available upon request.
Laboratory Testing for Cri-du-chat Syndrome is performed on metaphase chromosomes utilizing Fluorescence in situ hybridization targeting chromosome 5.
Causes for Rejection
Frozen specimen, inappropriate container
24-48 hrs after completion of cytogenetic analysis