6051

GTD Indications Diagnosis Carrier / Cascade Testing GTD Samples Accepted Blood DNA Dried Blood Spot (accepted ONLY for exceptional circumstances) GTD Test Methodology Sequencing GTD Methodology Notes PAH, DNAJC12, GCH1, PCBD1, PTS, QDPR, SPR Generic Test name (cms title) Amino Acid Disorders GTD Test type Gene Panel GTD Location Newborn Screening Ontario GTD Category Metabolic GTD Disease/Condition Phenylketonuria, DNAJC12 Deficiency, GTP Cyclohydrolase Deficiency, DOPA-Responsive Dystonia, PCBD1 Deficiency, PTS Deficiency, QDPR Deficiency, Sepiapterin Reductase Deficiency