Genetic Test Details

Constitutional FISH panel: 22q11.21 Deletion Syndrome

Test Information

Title
Constitutional FISH panel: 22q11.21 Deletion Syndrome
Category
Chromosomal Anomalies
Sub Category
FISH: 22q11.21 Deletion Syndrome
Gene/Platform/Region List

HIRA (TUPLE1)

Test type
Cytogenetic
Samples Accepted
Blood, Cultured Cells, Amniocyte, CVS, Products of Conception, Skin Punch
Indications
Diagnosis, Prenatal
Test Methodology
FISH
Methodology Notes

Constitutional 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)

Last Updated: November 26, 2025