UW Hospital and Clinics Lab Test Directory
| Test Name: |
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FISH Deletion 22q11.2
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| Test Code(s): |
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871F28 / HC871F28
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| CPT Code(s): |
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88271,88273
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| Methodology: |
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Fluorescence In Situ Hybridization (FISH)
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| Clinical Significance: |
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To detect deletion 22q11.2
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| Days Performed: |
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Mon-Sat.
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| Turnaround Time: |
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Routine: 10 - 14 days.
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Specimen Requirements
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| Collection Instructions: |
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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.
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| Collection Container: |
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Preferred: Green top (with sodium heparin anticoagulant)
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| Collection Volume: |
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Preferred: 2-3 mL
Pediatrics: 1 mL
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| Sample Analyzed: |
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Whole Blood
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| Specimen Transport: |
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Transport specimen to UWHC Core Laboratory (B4/220) at room temperature. Transport with coolant pack during hot, >85º weather.
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| Unacceptable Criteria: |
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Blood collected in EDTA, sodium citrate. Blood that is clotted or frozen. Plasma or serum is not acceptable.
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| Stability: |
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Ambient: 24 hours
Refrigerated: Not acceptable
Frozen: Not acceptable
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Interpretation
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Interpretation provided with results.
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| Test Limitations: |
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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.
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| Additional Information: |
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If FISH assay is not performed in conjunction with chromosome analysis, there is an additional charge for processing the specimen.
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DiGeorge Velo-cardio-facial Shprintzen Conotruncal anomaly
TUPLE1
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