title: [Frequency view on genome changes testing].
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.
authors.affiliation: Ustav hematologie a krevni transfuze, Praha. rbrdicka@uhkt.cz
authors.forename: R
authors.initials: R
authors.lastname: Brdicka
authors.forename: M
authors.initials: M
authors.lastname: Beránek
authors.forename: M
authors.initials: M
authors.lastname: Cimburová
authors.forename: J
authors.initials: J
authors.lastname: Dvorácková
authors.forename: D
authors.initials: D
authors.lastname: Dvoráková
authors.forename: J
authors.initials: J
authors.lastname: Hájková
authors.forename: C
authors.initials: C
authors.lastname: Haskovec
authors.forename: V
authors.initials: V
authors.lastname: Kebrdlová
authors.forename: M
authors.initials: M
authors.lastname: Karas
authors.forename: A
authors.initials: A
authors.lastname: Kratochvílová
authors.forename: F
authors.initials: F
authors.lastname: Losan
authors.forename: M
authors.initials: M
authors.lastname: Macek
authors.forename: F
authors.initials: F
authors.lastname: Musil
authors.forename: M
authors.initials: M
authors.lastname: Putzová
authors.forename: S
authors.initials: S
authors.lastname: Rozmanová
authors.forename: P
authors.initials: P
authors.lastname: Riedlová
authors.forename: M
authors.initials: M
authors.lastname: Safrová
authors.forename: O
authors.initials: O
authors.lastname: Scheinost
authors.forename: P
authors.initials: P
authors.lastname: Stolba
authors.forename: J
authors.initials: J
authors.lastname: Trka
authors.forename: T
authors.initials: T
authors.lastname: Vanecek
authors.forename: R
authors.initials: R
authors.lastname: Vrtel
mesh_terms: D005787:Gene Frequency; D005821:Genetic Techniques; D015894:Genome, Human / Q000235:genetics*; D006801:Humans