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GTD Indications Diagnosis Carrier / Cascade Testing Prenatal GTD Samples Accepted Blood Amniocyte CVS GTD Test Methodology FISH GTD Methodology Notes Metaphase FISH 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: Phelan-McDermid Syndrome GTD Test type Cytogenetic GTD Location Children's Hospital of Eastern Ontario GTD Gene/Platform/Region List SHANK3, 22q13.33 GTD Category Chromosomal Anomalies GTD Disease/Condition Phelan-McDermid syndrome (Phelan-McDermid syndrome, 22q13.3 Deletion Syndrome, Chromosome 22q13.3 Deletion Syndrome, Deletion 22q13 Syndrome)