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[Frequency view on genome changes testing].

Authors
  • Brdicka, R
  • Beránek, M
  • Cimburová, M
  • Dvorácková, J
  • Dvoráková, D
  • Hájková, J
  • Haskovec, C
  • Kebrdlová, V
  • Karas, M
  • Kratochvílová, A
  • Losan, F
  • Macek, M Jr
  • Musil, F
  • Putzová, M
  • Rozmanová, S
  • Riedlová, P
  • Safrová, M
  • Scheinost, O
  • Stolba, P
  • Trka, J
  • And 2 more
Type
Published Article
Journal
Casopís lékar̆ů c̆eských
Publication Date
Jan 01, 2006
Volume
145
Issue
2
Pages
98–103
Identifiers
PMID: 16521397
Source
Medline
License
Unknown

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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