Cytogenomics at Guy's Hospital (Developmental Disorders; Prenatal and Reproductive Genomics)

Laboratory overview

Our laboratories are leading providers of high quality comprehensive services for both constitutional and acquired chromosome abnormalities and microarray testing for the detection of constitutional chromosome imbalance in postnatal samples and prenatal samples for specified clinical indications. 

Key features:

Microarray 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 chromosome deletions and duplications and is carried out using the ThermoFisher high-throughput chromosomal microarray (HT-CMA) which has an expected median genome resolution of 74kb for losses and 125kb for gains for postnatal samples. SNP microarray can provide additional information and may also detect uniparental isodisomy, ploidy changes and absence of heterozygosity (AOH). 

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

The laboratories 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.
• PGT for structural chromosome rearrangements (PGT-SR). The PGT-SR service is part of the Guy's and St Thomas' Centre for Preimplantation Genetic Testing, which includes leading experts in the field of fertility and PGT, with an international reputation for excellence (see separate web page).

Tests provided by our laboratories are included in the National Test Directory: Home - South East Genomics : South East Genomics

Information on all tests carried out by our laboratories, plus the relevant referral forms can be found at: Order or find a test - South East Genomics : South East Genomics