Cri-Du-Chat Syndrome
Indications
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.
Collection Procedure
- Peripheral blood Collect whole blood in a green top tube (sodium heparin). Label tube with patient’s name and date of birth.
Specimen Requirements
FISH analysis is performed following cytogenetic analysis
Transport Temperature
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.
Methodology
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
Turnaround Time
24-48 hrs after completion of cytogenetic analysis