Genetic Test Details

FISH: DiGeorge Syndrome

Test Information

Title
FISH: DiGeorge Syndrome
Category
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
Diagnosis , 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))

Last Updated: June 23, 2025