1013

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: Williams Syndrome GTD Test type Cytogenetic GTD Location Children's Hospital of Eastern Ontario GTD Gene/Platform/Region List ELN, 7q11.23
GTD Category Chromosomal Anomalies GTD Disease/Condition Williams syndrome (Williams syndrome (WS), Williams-Beuren Syndrome (WBS), idiopathic infantile hypercalcemia (IHC), supravalvular aortic stenosis syndrome (SASS), Williams elfin facies syndrome, Beuren Syndrome, Elfin Facies with Hypercalcemia, Hypercalcemia-Supravalvar Aortic Stenosis, Early Hypercalcemia Syndrome with Elfin Facies)