FISH: 22q11.21 Deletion Syndrome (DiGeorge)

Test Information

Title
FISH: 22q11.21 Deletion Syndrome (DiGeorge)
Lab
Category
Chromosomal Anomalies
Test Name (CMS Title)
22q11.21 Deletion Syndrome
Gene/Platform/Region List
HIRA (TUPLE1), 22q11.21
Test type
Cytogenetic
Samples Accepted
Blood
Indications
Diagnosis, Carrier Cascade Testing
Test Methodology
FISH
Methodology Notes
Metaphase FISH
Disease/Condition
22q11.21 Deletion Syndrome (DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), conotruncal anomaly face syndrome (CTAF), Opitz G/BBB syndrome, and Cayler cardiofacial syndrome (asymmetric crying facies), Sedlackova syndrome, Shprintzen Syndrome)

Last Updated: November 14, 2025

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