Frequentational View on the Genome Changes Testing

Czech version

Authors: R. Brdička ¹; M. Beránek ²; M. Čimburová ³; J. Dvořáčková ⁴; D. Dvořáková ⁵; J. Hájková ⁶; C. Haškovec ¹; V. Kebrdlová ⁷; M. Karas ⁸; A. Kratochvílová ⁹; F. Lošan ¹⁰; M. Macek Jr. ¹¹; F. Musil ¹²; M. Putzová ¹³; Š. Rožmanová ¹⁴; P. Riedlová ¹⁵; M. Safrová ¹⁶; O. Scheinost ¹⁷; P. Štolba ¹⁸; J. Trka ¹⁹; T. Vaněček ²⁰; R. Vrtěl ²¹
Authors‘ workplace: Ústav hematologie a krevní transfuze, Praha ¹; Ústav klinické biochemie a diagnostiky LF UK a FN, Hradec Králové ²; CBO, Oddělení buněčné a molekulární biologie 3. LF UK, Praha ³; CGB Laboratoř s. r. o., Ostrava ⁴; Centrum molekulární biologie a genové terapie IHOK FN, Brno ⁵; Centrální hematologická laboratoř VFN, Praha ⁶; Ústav biologie a lékařské genetiky 1. LF UK, Praha ⁷; Hemato-onkologické oddělení FN, Plzeň ⁸; OLG PDM, Brno ⁹; Genetika Plzeň s. r. o., Plzeň ¹⁰; Ústav biologie a lékařské genetiky 2. LF UK a FNM, Praha ¹¹; BioLab, s. r. o., Klatovy ¹²; GENNET, s. r. o., Praha ¹³; Hemato-onkologická klinika, Olomouc ¹⁴; Onkologické centrum J. G. Mendela, Nový Jičín ¹⁵; ÚLG FN, Plzeň ¹⁶; Oddělení lékařské genetiky, České Budějovice ¹⁷; Transfuzní oddělení, Masarykova nemocnice, Ústí nad Labem ¹⁸; Klinika dětské hematologie a onkologie 2. LF UK a FNM, Praha ¹⁹; Šiklův patologicko anatomický ústav FN, Plzeň ²⁰; Ústav lékařské genetiky a fetální medicíny, Olomouc ²¹
Published in: Čas. Lék. čes. 2006; 145: 98-103
Category: Review Article

Overview

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.

Labels

Addictology Allergology and clinical immunology Angiology Audiology Clinical biochemistry Dermatology & STDs Paediatric gastroenterology Paediatric surgery Paediatric cardiology Paediatric neurology Paediatric ENT Paediatric psychiatry Paediatric rheumatology Diabetology Pharmacy Vascular surgery Pain management

Cholesterol, Violence and Suicidality – History of Errors

HLA-DPB1 Gene Analysis in Haematopoietic Stem Cell Transplantations

Prenatal Diagnostics of Tuberous Sclerosis Based on Causal Mutation Knowledge

Analysis of Free Foetal DNA in Maternal Plasma Using STR Loci

Increased Risk of Malignancies in Heterozygotes in Families of Patients with Nijmegen Breakage Syndrome

Association of Polymorphic Variants in Endothelin-1 (EDN1) Genes with the Therapy of Patients with Cutaneous T-cell Lymphomas

Pharmacogenetics of Chronic Heart Failure – Beta Blockers

Consultation Activity of Two Slovak Centres for Pharmacotherapy During Pregnancy and Lactation

Recurrent Peripheral Arterial Embolism from Metastatic Lung Choriocarcinoma

History of Medical Genetics in the Czech Republic

Hypertrophic Cardiomyopathy

New Approaches to Haemophilia Treatment – Recombinant and Transgenic Concentrates, Gene Therapy and Engineered Coagulation Factors