Evaluation of array-CGH for chromosomal abnormalities in clinical practice

A systematic evaluation of the use of array CGH for the diagnosis of previously known and unknown abnormalities


Microarray based comparative genomic hybridisation (array CGH) is a new technology with uses developing in various diagnostic areas within the NHS. One important context is the investigation of chromosomal amplifications, deletions and rearrangements that can be aetiological factors in learning disability (LD). A Working Group set up at the request of the UKGTN set out to evaluate the use of array CGH in this context and to make recommendations to the UKGTN on the introduction of this new technology into routine clinical practice. Chaired by Hilary Burton, the Working Group met five times between July 2005 and April 2006. 

The Report is drafted in ten chapters including: a description of the technology; epidemiology; clinical context; the value of a genetic diagnosis (parental and clinical aspects); a survey of developmental work on array CGH being undertaken currently in UK laboratories; formal evaluation of tests including systematic review and meta-analysis; economic cost analysis; final discussion and recommendations. 

By Hilary Burton, Philippa Brice, Simon Sanderson, Subu Iyer, Julian Higgins, Gurdeep S Sagoo

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