• Test Code:
  • Department:
  • Test Synonyms:
    DiGeorge syndromeDeletion 22q11.2 syndromeTUPLE1
  • CPT Code(s):

Fluorescent in situ hybridization (FISH) with the TUPLE1 probe and control probe ARSA detects deletion/duplication in the velocardiofacial/DiGeorge syndrome region of 22q11.2.


Slides are prepared per standard protocols. 10 metaphase cells and 50 interphase cells are scored per probe.  This FISH test is used as a supplement to standard G-banded chromosome analysis.

Specimen Requirements:


  • Adult - 3-5 mL drawn into a GREEN top sodium heparin vacutainer tube or into a pre-heparinized plastic syringe (use 0.2 cc sodium heparin, 1000 unit/mL).  Do NOT use lithium heparin.
  • Child - 1-2 mL, as above.
  • Infant - 1-2 mL, as above. 
  • Keep at room temperature and transport to laboratory as soon as possible.
  • Contact Client Services at (855) 535-1522 for supplies and instructions.

A REQUISITION FORM MUST ACCOMPANY ALL SAMPLES.  Please include detailed clinical information, including ethnicity, clinical history, and family history.

Test Performed (Days):

Mon - Sat

Turn Around Time:

3 - 7 days

Shipment Sensitivity Requirements:

Ship via overnight express, using the FedEx priority overnight label provided.  Use cold pack to keep specimens cool, but not frozen.  Contact Client Services at (855) 535-1522 for shipping kits and instructions.


For 22q11.2 deletion syndrome clinical and testing review see NCBI GeneReviews:  http://www.ncbi.nlm.nih.gov/books/NBK1523/

Additional Info:

The Knight Cancer Institute at Oregon Health & Science University is a pioneer in the field of precision cancer medicine. The institute's director, Brian Druker, M.D., helped prove it was possible to shut down just the cells that enable cancer to grow. This breakthrough has made once-fatal forms of the disease manageable and transformed how cancer is treated. The OHSU Knight Cancer Institute is the only National Cancer Institute-designated Cancer Center between Sacramento and Seattle – an honor earned only by the nation's top cancer centers. It is headquarters for one of the National Cancer Institute's largest research collaboratives, SWOG, in addition to offering the latest treatments and technologies as well as hundreds of research studies and clinical trials.

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