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In the last few years, array comparative genomic hybridisation (aCGH) has become a valuable genome-wide screening tool for the detection of chromosomal aberrations in the form of copy number variants (CNVs). Commercially available platforms cover the subtelomeric regions and all known microdeletion/microduplication syndrome regions, as well as the rest of the genome, with resolution ranging from 8 kb to 1 Mb. Besides detecting clearly pathogenic or benign CNVs, aCGH can uncover CNVs with unknown clinical significance, thus complicating the interpretation of aCGH results. The main indications include children with mental retardation, developmental delay, congenital anomalies and neuropsychiatric disorders such as autism. In this patient group, aCGH will gradually replace conventional chromosome analysis as the frontline test, and its implementation in prenatal diagnostics is in discussion. Another promising field is cancer diagnosis, for which aCGH will enable clinicians to classify and prognose different tumours more accurately in the near future.

laboratoriumsmedizin

Array comparative genomic hybridisation in clinical diagnostics: principles and applications / Array-CGH in der klinischen Diagnostik: Prinzipien und Anwendungen