GTD Indications
Diagnosis
Carrier / Cascade Testing
Prenatal
GTD Samples Accepted
Blood
DNA
Cultured Cells
Amniocyte
CVS
GTD Test Methodology
CNV
GTD Methodology Notes
MLPA Exon 7
Generic Test name (cms title)
Spinal muscular atrophy
GTD Test type
Gene Panel
GTD Location
Children's Hospital of Eastern Ontario
GTD Gene/Platform/Region List
SMN1, SMN2
GTD Category
Neurogenetics
GTD Disease/Condition
Spinal muscular atrophy (SMA), SMA I (Werdnig-Hoffmann disease, acute SMA), SMA II (Chronic SMA, Dubowitz disease), SMA III (Kugelberg-Welander disease, juvenile SMA), SMA IV (adolescent-SMA, adult-onset SMA)