4009

GTD Indications Diagnosis Carrier / Cascade Testing Prenatal GTD Samples Accepted Blood DNA Cultured Cells Buccal Swab Saliva GTD Test Methodology Sequencing Generic Test name (cms title) Biotinidase Deficiency GTD Test type Single Gene GTD Location London Health Sciences Centre GTD Gene/Platform/Region List BTD
GTD Category Metabolic GTD Disease/Condition Biotinidase Deficiency, Late-Onset Multiple Carboxylase Deficiency, BTD Deficiency, infantile multiple carboxylase deficiency, juvenile multiple carboxylase deficiency, delayed-onset biotinidase deficiency, profound biotinidase deficiency, partial biotinidase deficiency