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FISH: 22q11.21 Deletion Syndrome (DiGeorge)
Test Information
- Title
-
FISH: 22q11.21 Deletion Syndrome (DiGeorge)
- 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: December 09, 2025
