Population Carrier Screening for Spinal Muscular Atrophy A Position Statement of the Association for Molecular Pathology

被引：20

作者：

Muralidharan, Kasinathan ^{[2
,3
]}

Wilson, Robert B. ^{[2
,4
]}

Ogino, Shuji ^{[2
,5
]}

Nagan, Narasimhan ^{[2
,6
]}

Curtis, Christine ^{[2
,7
]}

Schrijver, Iris ^{[1
,2
,8
]}

机构：

[1] Stanford Univ, Dept Pathol, Med Ctr, Sch Med, Stanford, CA 94305 USA

[2] Assoc Mol Pathol AMP, Clin Practice Comm, Chantilly, VA USA

[3] Quest Diagnost Nichols Inst, Chantilly, VA USA

[4] Univ Penn, Dept Pathol & Lab Med, Philadelphia, PA 19104 USA

[5] Brigham & Womens Hosp, Dept Pathol, Boston, MA 02115 USA

[6] Genzyme Corp, Mol Diagnost Lab, Westborough, MA USA

[7] Univ Hosp Cleveland, Ctr Human Genet Lab, Case Med Ctr, Cleveland, OH 44106 USA

[8] Stanford Univ, Dept Pediat, Sch Med, Stanford, CA 94305 USA

来源：

JOURNAL OF MOLECULAR DIAGNOSTICS | 2011年 / 13卷 / 01期

关键词：

ALLELE; SMN1;

D O I：

10.1016/j.jmoldx.2010.11.012

中图分类号：

R36 [病理学];

学科分类号：

100104 ;

摘要：

Spinal muscular atrophy is a common and of ten 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. (J Mol Diagn 2011, 13: 3-6; DOI: 10.1016/j.jmoldx.2010.11.012)

引用

页码：3 / 6

页数：4

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