Cytogenetics Laboratory at Guy's Hospital

Laboratory overview

Our laboratory is a leading provider of high quality comprehensive services for both constitutional and acquired chromosome abnormalities and array CGH (aCGH) testing for the detection of constitutional chromosome imbalance in postnatal samples and prenatal samples for specified clinical indications. 

Key features:

Array CGH is offered as a first line postnatal test to the South East Thames Region and is also available to other referring centres in the UK and abroad. The test detects all the submicroscopic chromosome deletions and duplications previously identified by Fluorescence In Situ Hybridization (FISH) and Multiplex Ligation Probe Amplification (MLPA). In addition, imbalance across the genome is detected with an average resolution of approximately 100-200 kilobases for postnatal samples, with specific, more targeted analysis for fetal tissues and for prenatal samples.

Conventional G-banded karyotype analysis is also available where a balanced chromosome rearrangement is suspected.

The laboratory also offers an extensive portfolio of specialist molecular tests and expertise including :

• Quantitative Fluorescence-PCR (QF-PCR) for rapid detection of chromosome aneuploidy and triploidy. We are the provider of rapid prenatal diagnostic testing to the Greater London Region and South East; more than 95% of samples receive results the following working day.
• Genotyping studies for zygosity and uniparental disomy.
• Y chromosome microdeletion test for infertility referrals.

Other areas of specialist expertise for constitutional chromosome abnormalities include:

• Chromosome breakage studies (including prenatal testing) for the diagnosis of chromosome instability disorders.
• PGD for chromosome rearrangements. The PGD service is part of the Guy's and St Thomas' Centre for Preimplantation Genetics Diagnosis, which includes leading experts in the field of fertility and PGD, with an international reputation for excellence (see separate web page).