9003

GTD Indications Carrier / Cascade Testing Prenatal GTD Samples Accepted Blood DNA GTD Test Methodology Sequencing GTD Methodology Notes Mass Array and Targeted Sanger Sequencing Generic Test name (cms title) Ashkenazi Jewish Screening panel GTD Test type Targeted Variant GTD Location The Hospital for Sick Children GTD Gene/Platform/Region List ASPA, BLM, FANCC, HEXA, IKBKAP, MCOLN1, SMPD1 GTD Category Fertility/Reproductive GTD Disease/Condition Ashkenazi Jewish Panel, Bloom syndrome, Canavan disease, Familial Dysautonomia, Fanconi Anemia Group C, Mucolipidosis IV, Niemann-Pick disease,Tay-Sachs disease