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22q11.2 Deletion Syndrome
Test Information
- Title
-
22q11.2 Deletion Syndrome
- Category
- Neurodevelopmental
- Test Name (CMS Title)
-
22q11.21 Deletion Syndrome
- Gene/Platform/Region List
-
22q11.2
- Test type
- Samples Accepted
- Blood
- Indications
- Diagnosis
- Test Methodology
- Methodology Notes
-
MLPA 29 Genes within the 22q11-13 region
- Disease/Condition
-
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
