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Peripheral Blood (Deletion and Microdeletion Syndromes) — FISH Analysis

CPT Code(s): 88230, 88273, 88271(x per probe)

Service Code (IU Health): 53100293, 53100665, 53100640

Ordering Recommendation: Detection of genetic chromosomal anomalies such as microdeletions/duplications not identifiable by routine molecular cytogenetic analysis. No additional specimen required in conjunction with chromosome study.

Synonyms: FISH, constitutional, congenital, syndrome, Cri-du-chat, DiGeorge, Velocardiofacial syndrome (VCFS), SRY, Williams

Methodology: Fluorescence in situ hybridization (FISH) analysis.

Performed: Monday through Friday

Reported: 5-7 days

Specimen Requirements

Collect: Whole blood in dark green-top sodium heparin tube.

Specimen Volume: Infants: 2-4 mL; Adults: 7-10 mL.

Storage/Transport: Room temperature. Do not freeze or expose to extreme temperatures.

Unacceptable Conditions: Frozen specimens. Clotted specimens.

Stability: Ambient: 48 hours; Frozen: Unacceptable.