GTD Indications
Diagnosis
Carrier / Cascade Testing
Prenatal
GTD Samples Accepted
Blood
DNA
GTD Test Methodology
CNV
Sequencing
Generic Test name (cms title)
Urea Cycle Disorders
GTD Test type
Gene Panel
GTD Location
London Health Sciences Centre
GTD Gene/Platform/Region List
ARG1, ASL, ASS1, CA5A, CPS1, GLUD1, GLUL, NAGS, OTC, SLC25A13, SLC25A15, SLC25A2, SLC7A7
GTD Category
Metabolic
GTD Disease/Condition
N-acetylglutamate synthase (NAGS) deficiency, Carbamoylphosphate synthetase I (CPS1) deficiency, Ornithine transcarbamylase (OTC) deficiency, Argininosuccinate synthase 1 (ASS1) deficiency or Citrullinemia type I, Citrin deficiency or Citrullinemia type II, Argininosuccinic lyase (ASL) deficiency, Arginase (ARG) deficiency, Ornithine translocase deficiency