11045

GTD Indications Diagnosis Carrier / Cascade Testing GTD Samples Accepted Blood DNA GTD Test Methodology Microarray GTD Methodology Notes SNP microarray 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) Microarray: Microduplication/deletion Syndrome GTD Test type Cytogenetic GTD Location Trillium Health Partners - Credit Valley Hospital GTD Gene/Platform/Region List Chromosome complement GTD Category Chromosomal Anomalies Neurodevelopmental GTD Disease/Condition Developmental delay, intellectual disability, congenital anomalies, 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, Prader Willi/Angelman Syndrome, Disorders of sex development, Kallmann Syndrome, Miller-Dieker Syndrome, Smith-Magenis Syndrome, Microdeletion 22q11.2 Syndrome, Steroid Sulfatase Deficiency, X-Linked Ichthyosis, Steroid Sulfatase Deficiency (SSD), Steroid sulfatase deficiency disease (SSDD), Placental steroid sulfatase deficiency, Williams Syndrome, 7q11.23 Deletion, Wolf-Hirschhorn Syndrome, 4p- Syndrome, Sex Chromosome Determination, Ambiguous Genitalia, AML/SRY