Population carrier screening for spinal muscular atrophy a position statement of the association for molecular pathology

Kasinathan Muralidharan; Robert B Wilson; Shuji Ogino; Narasimhan Nagan; Christine Curtis; Iris Schrijver

doi:10.1016/j.jmoldx.2010.11.012

Population carrier screening for spinal muscular atrophy a position statement of the association for molecular pathology

J Mol Diagn. 2011 Jan;13(1):3-6. doi: 10.1016/j.jmoldx.2010.11.012. Epub 2010 Dec 23.

Authors

Kasinathan Muralidharan¹, Robert B Wilson, Shuji Ogino, Narasimhan Nagan, Christine Curtis, Iris Schrijver

Affiliation

¹ Clinical Practice Committee of the Association for Molecular Pathology (AMP), Chantilly, Virginia, USA.

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.

Publication types

Consensus Development Conference

MeSH terms

Genetic Carrier Screening*
Genetic Testing / standards
Genetic Testing / trends
Humans
Mass Screening / standards
Mass Screening / trends
Muscular Atrophy, Spinal / diagnosis*
Muscular Atrophy, Spinal / genetics*
Risk Assessment
Standard of Care / ethics
Standard of Care / legislation & jurisprudence