del(22)(q11.2), deletion 22q11.2
Fluorescence in situ Hybridization (FISH)
*performed by affiliate laboratory
5.0 mL (min. 3.0 mL) whole blood, sodium heparin
Protect from extreme temperature. Ship with cool pack (refrigerated). Ship on Saturday for Monday delivery only if sample is protected from extreme temperature.
Clotted specimen; Specimen exposed to extreme temperature; Anticoagulant toxic to cells; Insufficient number of cells
It is recommended that all FISH studies be done in conjunction with routine cytogenetic studies. If the FISH result is normal, a chromosome analysis allows identification of more complex abnormalities.
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.