Yu Shihui, Bittel Douglas C, Kibiryeva Nataliya, Zwick David L, Cooley Linda D
Department of Pathology, Children's Mercy Hospitals and Clinics and University of Missouri-Kansas City School of Medicine, Kansas City, MO 64108, USA.
Am J Clin Pathol. 2009 Sep;132(3):349-60. doi: 10.1309/AJCP1BOUTWF6ERYS.
High-resolution microarray comparative genomic hybridization (aCGH) is being adopted for diagnostic evaluation of genomic disorders, but validation for clinical diagnosis has not yet been reported. We present validation data for the Agilent Human Genome Microarray Kit 244K for clinical application. The platform contains approximately 240,000 distinct 60-mer oligonucleotide probes spanning the entire human genome. We studied 45 previously characterized samples (43 abnormal, 2 normal), 32 with knowledge of prior results and 13 in a blinded manner with 11 performed in a reference laboratory providing microarray testing. Array analysis confirmed known aberrations in 43 samples and a normal result in 2. The array analysis corrected 1 karyotype and clarified 2 additional cases. Array data from 6 patients with 22q11.2 deletion found an average of 2.56 megabases (Mb; range, 2.49-2.62 Mb) with a common 2.43-Mb deleted region. Approximately 7 copy number variants from 400 base pairs to 1.6 Mb were identified per sample. Results demonstrate the usefulness of the aCGH-244K platform as a powerful diagnostic tool.
高分辨率微阵列比较基因组杂交技术（aCGH）正被用于基因组疾病的诊断评估，但尚未见其用于临床诊断的验证报道。我们展示了安捷伦人类基因组微阵列试剂盒244K用于临床应用的验证数据。该平台包含约240,000个跨越整个人类基因组的独特60聚体寡核苷酸探针。我们研究了45个先前已特征化的样本（43个异常，2个正常），其中32个已知先前结果，13个为盲法检测，其中11个在提供微阵列检测的参考实验室进行。阵列分析证实了43个样本中的已知畸变，2个样本结果正常。阵列分析纠正了1个核型并澄清了另外2个病例。对6例22q11.2缺失患者的阵列数据显示，平均缺失2.56兆碱基（Mb；范围为2.49 - 2.62 Mb），有一个常见的2.43-Mb缺失区域。每个样本大约鉴定出7个从400碱基对到1.6 Mb的拷贝数变异。结果表明aCGH - 244K平台作为一种强大的诊断工具的实用性。
