Genetic Test Details
FISH: 22q11.21 Deletion Syndrome (DiGeorge)
Test Information
- Titre
-
FISH: 22q11.21 Deletion Syndrome (DiGeorge)
- Catégorie
- Chromosomal Anomalies
- Sub Category
-
22q11.21 Deletion Syndrome
- Gene/Platform/Region List
-
HIRA (TUPLE1), 22q11.21
- Test type
- Cytogenetic
- Samples Accepted
- Blood , Amniocyte , CVS
- Indications
- Diagnostics , Carrier Cascade Testing , Prenatal
- 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)
Dernière Mise à Jour: 18 juin 2025