Mesh : Abnormalities, Multiple / diagnosis genetics Autistic Disorder / diagnosis genetics Comparative Genomic Hybridization / standards Developmental Disabilities / diagnosis genetics Genetic Testing / standards Genetics, Medical Genomics / standards Humans Intellectual Disability / diagnosis genetics Oligonucleotide Array Sequence Analysis / standards Polymorphism, Single Nucleotide Prenatal Diagnosis / standards

来  源:   DOI:10.1038/gim.2013.129   PDF(Sci-hub)

Abstract:
Microarray methodologies, including array comparative genomic hybridization and single-nucleotide polymorphism-detecting arrays, are accepted as an appropriate first-tier test for the evaluation of imbalances associated with intellectual disability, autism, and multiple congenital anomalies. This technology also has applicability in prenatal specimens. To assist clinical laboratories in validation of microarray methodologies for constitutional applications, the American College of Medical Genetics and Genomics has produced the following revised professional standards and guidelines.
摘要:
微阵列方法,包括阵列比较基因组杂交和单核苷酸多态性检测阵列,被接受为评估与智力残疾相关的不平衡的适当的第一层测试,自闭症,和多种先天性异常。该技术在产前标本中也具有适用性。为了协助临床实验室验证用于宪法应用的微阵列方法,美国医学遗传学和基因组学学院制定了以下修订的专业标准和指南。
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