Naslov
Molecular diagnostics: Quality assurance program in genotyping. A Croatian experience

Autori
Sertić, Jadranka

Izvornik
Biochemia medica : časopis hrvatskoga društva medicinskih biokemičara (1330-0962) 14 (2004), 3-4; 95-100

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, pregledni rad, znanstveni

Ključne riječi
genotype+analysis; quality control+standards; health planning guidelines

Sažetak
A program of molecular diagnosis has developed into a principal part of laboratory medicine over the past 20 years. Although much diagnostic testing for rare disorders is still carried out in research laboratories, testing for more common genetic disorders, such as cystic fibrosis, muscular dystrophies, fragile X chromosome and hemochromatosis is now carried out in specialist diagnostic laboratories. Molecular genetic tests are extremely specific and usually detect presence or absence of a mutation, the number of repeat units, or the number of copies of a gene. Molecular testing laboratories use a wide variety of technologies, equipment and, according to best practice recommendations, participate in external quality assessment. Zagreb University Hospital Center has participated in the scheme run by the European Molecular Genetics Quality Network and Deutsche Vereinte Gesellschaft fuer Klinische Chemie and Laboratoriumsmedizin e.V. since 1998. The external quality assessment scheme for cytogenetics, molecular genetics, biochemistry and immunogenetics is an important step in the new millenium towards harmonization of laboratory and clinical services at European, regional and national level.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti

POVEZANOST RADA