GTD Indications
Diagnosis
Carrier / Cascade Testing
GTD Samples Accepted
Blood
DNA
Dried Blood Spot (accepted ONLY for exceptional circumstances)
GTD Test Methodology
CNV
Sequencing
GTD Methodology Notes
Sequencing + MLPA
Generic Test name (cms title)
Amino Acid Disorders
GTD Test type
Single Gene
GTD Location
Newborn Screening Ontario
GTD Gene/Platform/Region List
PAH
GTD Category
Metabolic
GTD Disease/Condition
Phenylalanine hydroxylase (PAH) deficiency