
9034
GTD Indications
Diagnosis
Prenatal
GTD Samples Accepted
Blood
Fibroblasts
GTD Test Methodology
FISH
GTD Methodology Notes
FISH on cultured cells
GTD Notes
Before requesting this test, please contact the lab for information regarding eligibility and availability of testing for your patient.
Generic Test name (cms title)
FISH: 22q11.21 Deletion Syndrome
GTD Test type
Cytogenetic
GTD Location
The Hospital for Sick Children
GTD Gene/Platform/Region List
22q11.2- HIRA (22q11.2)/ARSA(22q13)
GTD Category
Chromosomal Anomalies
GTD 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))