Genetic Test Details
FISH: DiGeorge Syndrome
Test Information
- Titre
-
FISH: DiGeorge Syndrome
- Catégorie
- Chromosomal Anomalies
- Sub Category
-
FISH: 22q11.21 Deletion Syndrome
- Gene/Platform/Region List
-
22q11.2- HIRA (22q11.2)/ARSA(22q13)
- Test type
- Cytogenetic
- Samples Accepted
- Blood, Fibroblasts
- Indications
- Diagnostics, Prenatal
- Test Methodology
- FISH
- Methodology Notes
-
FISH on cultured cells
- Disease/Condition
-
DiGeorge Syndrome (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