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Review
. 2006;145(2):98-103.

[Frequency view on genome changes testing]

[Article in Czech]
R Brdicka  1 , M Beránek, M Cimburová, J Dvorácková, D Dvoráková, J Hájková, C Haskovec, V Kebrdlová, M Karas, A Kratochvílová, F Losan, M Macek Jr, F Musil, M Putzová, S Rozmanová, P Riedlová, M Safrová, O Scheinost, P Stolba, J Trka, T Vanecek, R Vrtel
Affiliations
  • PMID: 16521397
Review

[Frequency view on genome changes testing]

[Article in Czech]
R Brdicka et al. Cas Lek Cesk. 2006.

Abstract

Laboratories dealing with human genome, both inherited and acquired changes, dispose with similar methods and technology. The spectrum of genetic tests is relatively broad and the number of mutations or variants tested differs substantially. Also the number of examinations carried out in individual laboratories varies. Data presented in the tables come from the year 2004 and indicate the number of examinations requested and number of positive results. Many laboratories mentioned in the registry CZDDNAL (http://www.uhkt.cz/lab_a_vysetreni/nr lab_dna_diag/dna_lab_db) perform the same tests but there is also a great number of tests carried out by only one laboratory. Reasons of the request, cost-effectiveness and clinical utility of genetic testing is being discussed.

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