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FISH ANALYSIS:
Cri du Chat Syndrome
Cri-du-Chat syndrome is characterized by mental retardation, language delay, growth deficiency, and a characteristic cat-like cry. In almost every case, Cri-du-Chat syndrome is caused by deletions of chromosome 5p15.
- Confirmation of a Cri-du-Chat syndrome diagnosis in affected individuals
- Individuals with atypical clinical findings
FISH analysis for Cri-du-Chat syndrome is performed on metaphase chromosomes to detect deletions of chromosome 5p15. If not previously performed, chromosomal analysis is recommended in addition to the FISH study.
Blood: For adults and children, 3 – 5 cc collected in a sodium heparin (green top) vacutainer tube. For newborns, 2 cc is sufficient. Do not centrifuge or freeze. Store sample at room temperature.
8 days
88230, 88271, 88273, 88291
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