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UW Health SMPH
American Family Children's Hospital

UW Hospital and Clinics Lab Test Directory

Test Name: FISH- Deletion 22q11.2

Test Code(s): 871F28 / HC871F28

CPT Code(s): 88271,88273

Methodology: Fluorescence In Situ Hybridization (FISH)

Clinical Significance: To detect deletion 22q11.2

Days Performed: Mon-Sat.

Turnaround Time: Routine: 10 - 14 days.

Specimen Requirements

Collection Instructions: This blood must be received and processed by WSLH within 24 hours of collection.  Blood must be received by the UWHC Core Laboratory on Monday-Friday.

Collection Container: Preferred: Green top (with sodium heparin anticoagulant)

Collection Volume: Preferred: 2-3 mL
Pediatrics: 1 mL

Sample Analyzed: Whole Blood

Specimen Transport: Transport specimen to UWHC Core Laboratory (B4/220) at room temperature. Transport with coolant pack during hot, >85 weather.

Unacceptable Criteria: Blood collected in EDTA, sodium citrate. Blood that is clotted or frozen.  Plasma or serum is not acceptable.

Stability: Ambient: 24 hours
Refrigerated: Not acceptable
Frozen: Not acceptable


Interpretation provided with results.

Test Limitations:

Point mutations or very small deletions are not detected by this assay. Negative results do not rule out a diagnosis of DiGeorge/Velo-cardio-facial/Shprintzen/Conotruncal anomaly syndrome.

Additional Information:

If FISH assay is not performed in conjunction with chromosome analysis, there is an additional charge for processing the specimen.

DiGeorge Velo-cardio-facial Shprintzen Conotruncal anomaly

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