GTD Indications
Carrier / Cascade Testing
Diagnosis
Prenatal
GTD Samples Accepted
Amniocyte
Blood
CVS
Generic Test name (cms title)
22q11.21 Deletion Syndrome
GTD Test type
Cytogenetic
GTD Gene/Platform/Region List
HIRA (TUPLE1), 22q11.21
GTD Category
Chromosomal Anomalies
GTD 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)