DiGeorge Syndrome by FISH

Test name:
FISH, 22q11.2 deletion syndrome, DiGeorge syndrome

Order name:
DiGeorge syndrome by FISH

Specimen requirements:
Sodium heparin peripheral blood

Minimum volume:
1 mL. 4mL preferred

Storage and stability information:
Room temperature 3 days

Test performed:
Once per week

Methodology:
Fluorescence in situ hybridization

Reference range:
See lab report

Clinical significance:
Deletions in 22q11.2 have been associated with several disorders including DiGeorge syndrome (DGS) and Velocardiofacial syndrome (VCFS).  These syndromes are now officially known as 22q11.2 deletion syndrome, but many clinicians still refer to the syndromes by their individual names.  Greater than 90% of DGS and VCFS are associated with a deletion of this region.  In addition, a proportion of isolated conotruncal cardiac malformations have been associated with a deletion of the same region. 

CPT codes:
88368 x 2