Test Name
Wolf-Hirschhorn Syndrome deletion 4p16.3*
Test Code
F WH
Synonyms
del(4)(p16.3)
Associations
Wolf-Hirschhorn syndrome, WHS, Wolf syndrome, chromosome 4p syndrome
CPT Codes
88273x1, 88274x1, 88271x2, 88291x1
Turnaround Time
9
Specimen Requirements
5mL peripheral blood in sodium heparin Fixed cytogenetically prepared cells in sterile centrifuge tube with pellet visible in 3:1, Methanol:Acetic Acid
Specimen Stability
Blood = 4°C to 25°C, specimens are stable up to 72 hours Fixed cell pellets are stable for years when stored at -28°C to -15°C
Storage & Handling
4°C to 25°C during transit, but specimens may be transported on refrigerated gel packs. Do not allow the gel pack to come in contact with the specimen. Do not freeze. Extreme temperatures should be avoided.
Causes for Rejections
Clotted specimen; Specimen exposed to extreme temperature; Anticoagulant or collection vessel toxic to cells; Insufficient number of cells; Specimen exposed to fixative
Description
Wolf-Hirschhorn syndrome, causing deletion of the short arm of chromosome 4, affects approximately 1 in 50,000 births.
References
- Battaglia A. (2008). Update on the clinical features and natural history of Wolf-Hirschhorn (4p-) syndrome: experience with 87 patients and recommendations for routine health supervision. Am J Med Genet C Semin Med Genet. 15;148C(4):246-51.
