FISH Wolf Hirschhorn
Use
This fluorescence in situ hybridization (FISH) assay detects a partial deletion of the Wolf‑Hirschhorn syndrome (WHS) critical region in chromosome 4p16.3, aiding in the diagnosis of WHS, a rare chromosomal deletion disorder characterized by growth deficiency, distinctive craniofacial features (‘Greek warrior helmet’), seizures, hypotonia, microcephaly, and other congenital malformations. The clinical severity often correlates with deletion size. ([jdos.nicholsinstitute.com](https://jdos.nicholsinstitute.com/dos/nmmcpathology/test/571983?utm_source=openai))
Special Instructions
Not provided.
Limitations
Not provided.
Methodology
Chromosomal / Cytogenetics (FISH)
Biomarkers
Result Turnaround Time
7-10 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3–5 mL (children and adults); 1–2 mL (newborns)
Minimum Volume
2 mL (children and adults); 1 mL (newborns)
Container
sodium heparin (green top) tube
Causes for Rejection
Frozen or clotted specimens; specimens in anticoagulants other than sodium heparin
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | Ambient: 24 hours |
| Refrigerated | Refrigerated: 72 hours |
| Frozen | Frozen unacceptable |
