Genetic Test Details
FISH Analysis
Test Information
- Titre
-
FISH Analysis
- Catégorie
- Chromosomal Anomalies
- Sub Category
-
FISH: 22q11.21 Deletion Syndrome
- Gene/Platform/Region List
-
DiGeorge syndrome (22q11.2/TUPLE1)
- Test type
- Cytogenetic
- Samples Accepted
- Blood, Cultured Cells, Amniocyte, CVS, Fibroblasts
- Indications
- Diagnostics, Carrier Cascade Testing, Prenatal
- Test Methodology
- FISH
- Methodology Notes
-
22q11.2/TUPLE1
- 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)
Dernière Mise à Jour: 05 septembre 2025