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  Česky / Czech version Čas. Lék. čes, 2006, 145, pp. 98–103.
 
Frequentational View on the Genome Changes Testing 
1Brdička R., 2Beránek M., 3Čimburová M., 4Dvořáčková J., 5Dvořáková D., ... 

1Ústav hematologie a krevní transfuze, Praha, 2Ústav klinické biochemie a diagnostiky LF UK a FN, Hradec Králové 3CBO, Oddělení buněčné a molekulární biologie 3. LF UK, Praha 4CGB Laboratoř s.r.o., Ostrava 5Centrum molekulární biologie a genové terapie IHOK FN, Brno
 


Summary:

       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.

        Key words: laboratory medicine, molecular genetic laboratories, frequency of testing.
       

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