9010

GTD Indications Diagnosis Prenatal GTD Samples Accepted Blood DNA DNA (Not Accepted for MLPA) GTD Test Methodology CNV Methylation GTD Methodology Notes MLPA and STR of H19 (IC1) and KCNQ1 (IC2) region; UPD Analysis only 11p15; Gene Sequencing (Sanger - Robot); Targeted Sanger Sequencing GTD Notes DNA and CVS not accepted for MS-MLPA Generic Test name (cms title) Beckwith-Wiedemann Syndrome GTD Test type Single Gene GTD Location The Hospital for Sick Children GTD Gene/Platform/Region List CDKN1C, H19 (IC1), KCNQ1 (IC2), 11p15 GTD Category Skeletal/growth GTD Disease/Condition BWS, Wiedemann-Beckwith Syndrome, IMAGe Syndrome