Test Name
DiGeorge/Velo-Cardio-Facial Syndrome deletion 22q11.2*
Test Code
F VCF
Synonyms
del(22)(q11.2), deletion 22q11.2
Associations
DiGeorge syndrome
CPT Codes
88275x2, 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 toxic to cells; Insufficient number of cells
Description
DiGeorge syndrome is a rare congenital disease caused by a large deletion from chromosome 22, produced by an error in recombination at meiosis. This deletion indicates a loss of several genes from this region with the variation in symptoms relating to the
References
- Shprintzen RJ. et al. (2008). Velo-cardio-facial syndrome: 30 Years of study. Dev Disabil Res Rev.14(1):3-10.
