Genetic Test Details
Constitutional FISH: 22q11.21 Deletion Syndrome
Test Information
- Titre
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Constitutional FISH: 22q11.21 Deletion Syndrome
- Catégorie
- Chromosomal Anomalies
- Sub Category
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FISH: 22q11.21 Deletion Syndrome
- Gene/Platform/Region List
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HIRA
- Test type
- Cytogenetic
- Samples Accepted
- Blood
- Indications
- Diagnostics, Carrier Cascade Testing
- Test Methodology
- FISH
- Methodology Notes
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Constitutional FISH
- Disease/Condition
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DiGeorge (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))
Dernière Mise à Jour: 05 septembre 2025