Availability of Molecular Genetic Diagnostic Services in the Czech Republic. Is It too Much, too Less or Enough?
Nabídka diagnostických služeb v oblasti molekulární genetiky v České republice Je to málo, moc, nebo akorát?
Je podán přehled diagnóz a laboratoří nabízejících molekulárně genetické testování a porovnání, kolik laboratoří nabízí určitá vyšetření. Diagnózy jsou rozděleny do tří skupin: 1. diagnózy nabízené velkým počtem laboratoří, tj. více než 8; 2. diagnózy nabízené alespoň dvěma laboratořemi a 3. diagnózy nabízené jen jednou laboratoří. Mezi nejčastěji nabízené diagnózy patří vyšetření trombofilních faktorů F2 a F5 a metylentetrahydrofolátredukázy, cystické fibrózy, stanovení rodičovství, určení pohlaví, molekulární vyšetření hemochromatózy – HFE, stanovení přítomnosti fúzního genu BCR/ABL u myeloproliferací, a vyšetření Y-chromozomálních lokusů DAZ a AZF.
Klíčová slova:
molekulárně genetická diagnostika v ČR, nejčastěji nabízená vyšetření.
Authors:
R. Brdička; M. Dobrovolná
Authors‘ workplace:
Ústav hematologie a krevní transfuze, Praha
Published in:
Čas. Lék. čes. 2006; 145: 582-584
Category:
Special Articles
Overview
Review of diagnostic services offered by molecular genetic laboratories classified according the number of laboratories dealing with individual diagnoses is presented. Three different categories were distinguished: frequently, medium and rarely offered diagnostic service. Services that concerned trombophilic factors F2 a F5 and methylentetrahydrofolatreductase, cystic fibrosis, paternity testing, gender determination, molecular testing for hemochromatose - HFE, detection of BCR/ABL fused gene, and Y-chromosomal loci DAZ and AYF examination were most frequently offered.
Key words:
molecular genetic testing services in Czech Republic, most frequently and rarely offered services.
Labels
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