Redefining learning disability syndromes

Scientists in the UK use a Tecan HS 4800 Pro hybridisation station to automate array-based comparative genomic hybridisation (aCGH) for screening patients with learning disability and dysmorphology

The technique uses bacterial artificial chromosome (BAC) arrays, which are spotted with 3200 genomic clones, allowing resolution of approximately 1Mb and making it possible to identify previously undetected chromosomal abnormalities.

Dominic McMullan, principal clinical scientist at the at the West Midlands Regional Genetics Unit, explained, "We inject the probe onto the slides and leave them to be processed overnight, including automated washing and drying, so the slides are ready to scan next day and that's the beauty of the HS 4800 Pro.

"The system's segmented chambers allow us to do two separate hybridisations on one slide without any crossover.

"This is very important for aCGH, because we can test patient- and reference-labelled DNA in opposing fluorochromes on two different arrays, adding replicate confidence and removing any potential dye effects or bias.

"The HS Pro is easy to use and its inherent agitation makes the hybridisation very even across the slide, increasing the signal to noise ratio.

"The agitation setting allows more viscous hybridisation buffers to be used than previously, which is key, because aCGH buffers contain dextran sulphate.

"Automating the process gives increased reliability and reproducibility, as well as maximising our success rate.

"We are certainly detecting genomic changes that we would not have been able to pick up with previous methods.".

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