title: Population carrier screening for spinal muscular atrophy a position statement of the association for molecular pathology.
abstract: Spinal muscular atrophy is a common and often fatal autosomal recessive disorder for which carrier screening is available. The Association for Molecular Pathology has evaluated recent opinions regarding population carrier screening, reviewed the current literature, and developed a position statement that includes specific recommendations addressing both diagnostic and practical issues that affect implementation.
authors.affiliation: Clinical Practice Committee of the Association for Molecular Pathology (AMP), Chantilly, Virginia, USA.
authors.forename: Kasinathan
authors.initials: K
authors.lastname: Muralidharan
authors.forename: Robert B
authors.initials: RB
authors.lastname: Wilson
authors.forename: Shuji
authors.initials: S
authors.lastname: Ogino
authors.forename: Narasimhan
authors.initials: N
authors.lastname: Nagan
authors.forename: Christine
authors.initials: C
authors.lastname: Curtis
authors.forename: Iris
authors.initials: I
authors.lastname: Schrijver
mesh_terms: D006580:Genetic Carrier Screening; D005820:Genetic Testing / Q000592:standards / Q000639:trends; D006801:Humans; D008403:Mass Screening / Q000592:standards / Q000639:trends; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis* / Q000235:genetics*; D018570:Risk Assessment; D059039:Standard of Care / Q000941:ethics / Q000331:legislation & jurisprudence