Chromosomal microarray analysis - a routine clinical genetic test for patients with schizophrenia

By Kate Baker, Gregory Costain, Wai Lun Alan Fung, Anne S Bassett
View profile for: Dr. W.L. Alan Fung

Diagnosis of a specific cause of disease for an individual with schizophrenia was long thought to be impossible. However, genomic abnormalities with clear causal relevance can now be identified in a consistent minority of cases using chromosomal microarray analysis (CMA; also known as array comparative genomic hybridisation [array-CGH]). Analogous to a karyotype but with substantially improved genome-wide resolution, CMA can inform diagnosis and clinical management by identifying sub-microscopic segments of missing (deleted) or additional (duplicated) chromosomal material known as copy-number variants (CNVs). CMA is sensitive, reliable, and widely available in clinical laboratories around the world, including major medical centres in the developing world. The cost of CMA is competitive compared with other investigations, such as neuroimaging. CMA is now a standard first-line diagnostic test for intellectual disability and autism, where 10–20% of affected individuals have a clinically relevant deletion or duplication. Widespread application of CMA testing in these populations has increased confidence in diagnostic interpretation, enhanced the prognostic evidence base, and facilitated research progress. In our view, the time has come to translate replicated research findings with proven clinical usefulness into routine diagnostic practice for patients with schizophrenia.

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This is a peer reviewed Article

Article in Lancet Psychiatry
Volume #: 1
Issue #: 5
Pages: 329-331
Year: 2014

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