FISH, Cri du chat
Also known as: Cry of the Cat Syndrome, Cri du Chat Syndrome
Use
Fluorescence in situ hybridization (FISH) analysis to detect microdeletions in the Cri‑du‑chat syndrome critical region (5p15.2) associated with characteristic clinical findings such as a high‑pitched cry, developmental delay, growth retardation, and craniofacial dysmorphisms.
Special Instructions
Not provided.
Limitations
FISH detects deletions in the specific locus (5p15.2) and may not detect more complex rearrangements or mosaicism outside the targeted region; limited to the probe set used and may miss atypical or cryptic deletions.
Methodology
Chromosomal / Cytogenetics (FISH)
Biomarkers
Unknown CNV
Copy Number Region
Result Turnaround Time
7-10 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
Container
Sodium heparin (green‑top) tube
Collection Instructions
Peripheral blood in sodium heparin (green‑top) tube
Storage Instructions
Transport at ambient temperature; do not freeze
Causes for Rejection
Frozen or clotted specimens; specimens in anticoagulants other than sodium heparin
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 24 hours |
| Refrigerated | 72 hours |
Other tests from different labs that may be relevant