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FISH ANALYSIS, CRI-DU-CHAT SYNDROME
Chromosomal Locus: 5p15.2
Pseudonyms: Cat cry syndrome, Cat-cry syndrome, 5p15.2 Deletion, Monosomy 5p
TURNAROUND TIME: 7 to 10 days
TESTING METHODOLOGY:
Fluorescence in situ hybridization
SPECIMEN REQUIREMENTS:
- Collect: 3-5 mL peripheral blood in sodium heparin (green) for children and adults; 1-2 mL peripheral blood in sodium heparin (green) for newborns
- Min. Collection: 1 mL for newborns; 2 mL for children and adults
- Transport: peripheral blood in sodium heparin (green) at 20-25°C
- Stability: Ambient: 24 hours; Refrigerated: 72 hours; Frozen: unacceptable
- Unacceptable Conditions: Frozen or clotted specimens; specimens in anticoagulants other than sodium heparin
A Cytogenetics Laboratory Test Requisition must accompany the specimen. Contact the Cytogenetics Laboratory at 918-502-1722 to obtain further information.
INTERPRETIVE DATA:
Test Summary: Test can detect microdeletions of the Cri-du-chat syndrome critical region in 5p15.2.
Related Tests: Chromosome Analysis, Blood, High Resolution
Methods: A dual-color FISH analysis performed on metaphase cells using a probe for the D55721/D5S23 loci in 5p15.2 and a chromosome 5 control probe; analysis of 10 metaphase cells and 20 interphase cells
Indications for Use:
- Patients suspected of having Cri-du-chat syndrome on the basis of clinical findings such as low birth weight, plaintive cry, failure to thrive, microcephaly, low-set ears, hypertelorism, epicanthus, developmental delay
ADDITIONAL RESOURCES:
Genetics Home Reference: http://ghr.nlm.nih.gov/condition/cri-du-chat-syndrome