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Updated: Aug 17, 2026

Infinium Assay for Large-scale SNP Genotyping Applications
Published on: November 19, 2013
The Scottish molecular genetics consortium--15 years on
1Medical School, University of Aberdeen, Foresterhill, Aberdeen.
Abstract:
Remarkable advances have been made in recent years in our knowledge of the human genome. Genes for disorders such as Huntington disease, cystic fibrosis and Duchenne muscular dystrophy have been mapped and mutations identified. Simple molecular tests are now available for the diagnosis of these and many other conditions. As a result, in the last 15 years the whole new field of molecular pathology has been introduced to the Health Service of the United Kingdom and now there are nearly 40 diagnostic laboratories offering tests for a wide range of genetic disease. Scotland was at the forefront in the introduction of molecular diagnostics to Clinical Genetics Services and as early as 1985 plans were made to provide laboratories in Aberdeen, Dundee, Edinburgh and Glasgow. The four laboratories, the clinical genetics staff in each centre and the officials of the National Services Division now form the Scottish Molecular Genetics Consortium the objective of which is to provide testing for a wide range of disorders, to introduce new tests as genes are identified and to carry this out in a cooperative and coordinated manner.
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