Results usually available in 10-14 working days
Clinical indications: Intellectual disability, developmental delay, autism, congenital abnormalities, and suspected microdeletion/duplication syndromes or chromosomal aneuploidies
Array comparative genomic hybridization (aCGH), also called molecular karyotyping, is a technique that was developed for high resolution, genome-wide screening of segmental genomic copy number variations (CNVs). It allows for comprehensive interrogation of thousands of discrete genomic loci for DNA copy number gains and losses. The development and the clinical applications of aCGH in the past few years have revolutionized the diagnostic work up of patients and facilitated enormously the identification of the molecular basis of many genetic diseases. The application of aCGH to diagnostics is transforming the field of clinical genetics. aCGH has become an essential and a routine diagnostic tool and is gradually replacing cytogenetic methods in an increasing number of genetic laboratories.
The laboratory current utilizes commercially available oligonucleotide aCGH platforms from Agilent Inc. These whole-genome aCGH platforms, in which the targets are equally spaced with coverage of approximately one probe per 5 kb to one probe per 70 kb, include 4X44K, 4X180K, 2X105K, and 1X244K platforms. The advantages of using whole-genome oligonucleotide arrays include the ability to examine changes smaller than the average BAC size, higher resolution and enhanced dynamic range (signal to noise ratio).