Genetic Test Details

Constitutional FISH: 22q11.21 Deletion Syndrome

Test Information

Titre
Constitutional FISH: 22q11.21 Deletion Syndrome
Catégorie
Chromosomal Anomalies
Sub Category
FISH: 22q11.21 Deletion Syndrome
Gene/Platform/Region List
HIRA
Test type
Cytogenetic
Samples Accepted
Blood
Indications
Carrier Cascade Testing , Diagnosis
Test Methodology
FISH
Methodology Notes
Constitutional FISH
Disease/Condition
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: 18 juin 2025