The specialist genetic and genomic services are supported by the ‘state of art’ latest genetic and genomic tests carried out by leading genetic and genomic laboratories. All laboratories are validated and approved by the UK Genetic Testing Network (www.ukgtn.nhs.uk) and EuroGeneTest (www.eurogenetest.org). Our range of latest sophisticated genomic tests a wide range of common and rare genetic and genomic disorders, for example breast/ovarian cancer, colorectal cancer, epilepsy, developmental delay/autism and learning difficulties, multiple malformation dysmorphic syndromes and multi-system genetic diseases.
The following laboratory genetic and genomic testing is available-
- Conventional chromosome analysis ( Karyotype)- this is largely replaced with the microarray chromosome analysis.
- Microarray chromosome analysis (array comparative genomic hybridization-aCGH)
- Single gene tests for several hundred individual genetic diseases.
- Gene panels including multiple genes for group of genetic diseases, for example autism, growth and developmental delay, myopathy, cardiomyopathy, dementia etc.
- Whole exome sequencing (WES) to cover practically all genes in the genome. This test is available on the patient alone or with parents (trio).
- Whole exome sequencing plus- this investigation offers WES with copy number changes across the genome. This is also called WES with microarray chromosome analysis.
- Whole genome sequencing (WGS) offers browsing the whole genome. This is only applicable in specific situations as judged by the clinical geneticist.
- Screening tests for asymptomatic ‘at risk’ family members (predictive genetic testing) based on the known disease causing gene change or variant segregating in the family.
- Pre-conceptional genetic testing applicable to prospective parents with a family history of a genetic disease, blood relatives like first cousins, or belonging to a small community group with high incidence of a common genetic disease like cystic fibrosis, sickle cell disease, beta thalassemia, and inherited metabolic disease.
- Genetic or genomic testing in healthy individuals is not commonly recommended. The nature of testing would be determined in the pre-genetic testing counselling.
In addition to genetic or genomic testing, we offer pre and post testing counselling and support compared to those provided through non-specialist clinics or directly by the genetic/genomic laboratory. The genome clinic will ensure fair and accurate interpretation of all genetic/genomic test reports. Each report is carefully validated and professionally produced by the respective accredited genetic and genomic laboratory.