FISH Study: Microdeletion Metaphase - DiGeorge Syndrome (22q11.2)

Metaphase/Chromosome fluorescence in-situ hybridization (FISH) analyses; requires cell culture and a concurrent or previous routine karyotyping
Monday - Saturday
10 - 28 days

This test is used to detect chromosome 22 long-arm deletions associated with multiple genetic conditions, including DiGeorge Syndrome, but have also been described with 22q11.2 deletion syndrome, CATCH-22, velo-cardio facial syndrome, Shprintzen syndrome and others.

Interpretive report
Specimen Requirements: 

Peripheral Blood: Collected aseptically in sodium heparin tubes (usually green-top tubes) and immediately rotated thoroughly to prevent clotting. For infants obtain approximately 2 cc and for children and adults obtain 5 - 7 cc.

Note: A separate blood sample is required if a concurrent CGH microarray study is desired. Do not freeze or fix samples in any manner contrary to the maintenance of cell viability. Maintain sample sterility; keep all specimens at room temperature; and deliver samples to the laboratory within 24 - 48 hours. Ship specimens at room temperature for overnight delivery.

  • Unacceptable Conditions:
    • Frozen specimens
    • Specimens greater than 48 hours old*
  • Stability (collection to initiation of testing):
    • Ambient: 24 - 48 hours*
    • Frozen: Unacceptable

* Cell viability of specimens requiring cell culture may be compromised in specimens more than 48 hours old upon receipt. Refrigeration at 2° - 8° C may assist when a delay is not preventable. Do not freeze or place  specimens directly on ice.

Reference Values: 

By report; interpretive

CPT Code (s): 
  • 88271
  • 88273
  • 88291

UFHPL Test #: 30075

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