GTD Indications
Diagnosis
Carrier / Cascade Testing
GTD Samples Accepted
Blood
DNA
Dried Blood Spot (accepted ONLY for exceptional circumstances)
GTD Test Methodology
Sequencing
Generic Test name (cms title)
Fatty Acid Oxidation Diseases
GTD Test type
Gene Panel
GTD Location
Newborn Screening Ontario
GTD Gene/Platform/Region List
ABCD4, ACSF3, ALDH6A1, AMN, CBLIF, CD320, CUBN, HCFC1, LMBRD1, MCEE, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MMUT, PCCA, PCCB, SUCLA2, SUCLG1, TCN1, TCN2
GTD Category
Metabolic
GTD Disease/Condition
Propionic acidemia, propionyl-CoA carboxylase deficiency, homocysteinemia, Methylmalonic acidemia, MMA, Isolated Methylmalonic Aciduria