DiGeorge/Velo-Cardio-Facial Syndrome
Test Code
F VCF
Test Synonyms
del(22)(q11.2), deletion 22q11.2
Associations
DiGeorge syndrome
Methodology
Fluorescence in situ Hybridization (FISH)
CPT Codes
88368 x2
Turnaround Time
7-10 days
Specimen Requirements
- 5.0 mL (min. 3.0 mL) whole blood, sodium heparin
- 20-30 mL amniotic fluid, 2 to 3 sterile tubes, specimen volume includes chromosome analysis
Specimen Stability
72 hours at 18-25°C
Storage & Handling
Protect from extreme temperature. Ship on Saturday for Monday delivery only if sample is protected from extreme temperature.
Causes for Rejection
Clotted specimen; Specimen exposed to extreme temperature; Anticoagulant toxic to cells; Insufficient number of cells
Reference Range
See report
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 amount of genetic material lost.
References
- Shprintzen RJ. et al. (2008). Velo-cardio-facial syndrome: 30 Years of study. Dev Disabil Res Rev.14(1):3-10.
