Historically laboratory services within Genetics were split into testing performed either by microscopy or using DNA analysis, hence the sub-specialties within genetics of Cytogenetics and Molecular Genetics. More recently this separation has blurred with increasing use of molecular genetic techniques in 1st line cytogenetic testing. The molecular sub-specialty initially concentrated on inherited single-gene disorders, but historical separations have changed, with both disciplines contributing to the detection of acquired changes in cancer. The molecular genetics laboratory service performs and reports on a range of tests from simple PCR based assays to detect one specific mutation or a small set of mutations, right up to genome-scale sequencing. The cytogenetics service also performs a wide range of tests, using FISH analysis and karyotyping in addition to PCR based techniques. SNP-Array analysis detects copy number variants across the whole genome. The NGS is also a component of the North East Haemato-Oncology Diagnostic Service (NEHODS), which in collaboration with Flow Cytometry, Cellular Pathology and Haematology are responsible for diagnosis and prognosis of primarily haematological malignancies.
- The Genetics Laboratory operates within the Professional Guidelines of NHS England.
- The laboratory is accredited to ISO 15189 standard, this service is provided by United Kingdom Accreditation Service (UKAS), Please click here for scope of testing
- Clinical scientists and Genetic Technologist staff are State Registered with the Healthcare Professions Council (HCPC) after the required period of training
The Genetics Laboratory participates in the NHS England recommended external quality assurance schemes for all testing on the scope of accreditation.