Please use this specimen form to request testing
Please use the array CGH testing consent forms (BBGRE): Parents/Guardians or Capacitous Adults
The laboratory is a leader in array CGH testing for the detection of constitutional chromosome imbalance; array CGH is offered as a first line test to the South East Thames Region and is also available to other referring centres in the UK and abroad. The array CGH test detects imbalance across the genome with an average resolution of approximately 100-200 kilobases; this coverage includes all the submicroscopic chromosome deletions and duplications previously identified by separate Fluorescence In Situ Hybridization (FISH) and Multiplex Ligation Probe Amplification (MLPA) tests. Conventional G-band karyotype analysis is also available where a balanced chromosome rearrangement is suspected, and for prenatal diagnosis where there is a clinical indication.
The laboratory offers an extensive portfolio of specialist tests and expertise including : Quantitative Fluorescence-PCR (QF-PCR) for rapid detection of chromosome aneuploidy (provider of rapid prenatal diagnostic testing to the Greater London Region and South East), genotyping studies for zygosity and uniparental disomy, and a combined QF-PCR/MLPA test providing a very efficient and cost-effective test with >95% success rate for solid tissue specimens, aiding in identifying the reason for fetal loss in couples with recurrent miscarriages or fetal demise; in addition to detection of ploidy and subtelomeric imbalance, this method also identifies the majority of molar pregnancies.
Other areas of specialist expertise for constitutional chromosome abnormalities include chromosome breakage studies (including prenatal testing) for the diagnosis of chromosome instability disorders, and 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.
The Oncology cytogenetics section is a new service established to detect acquired chromosome abnormalities. It offers a wide range of tests and methodologies coupled with dedicated analytical and interpretative expertise to meet the increasing requirements of clinical oncologists.
For a comprehensive list of Cytogenetics Laboratory tests, please click here
