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[Quality control of DNA testing in hereditary diseases].

作者信息

van den Ouweland A M, Scheffer H

机构信息

Erasmus Universitair Medisch Centrum, afd. Klinische Genetica, sectie DNA-diagnostiek, Postbus 1738, 3000 DR Rotterdam.

出版信息

Ned Tijdschr Geneeskd. 2001 Jan 20;145(3):125-9.

PMID:11206122
Abstract

The laboratories performing diagnostic studies regarding hereditary diseases and the specialists providing hereditary counselling are housed in clinical genetic centres. The laboratories are subject to the Special Medical Performances Act and have had licenses from the Ministry. The DNA diagnostic laboratories united in the National Committee on DNA Diagnostics, engaged among other things in quality control. The large number of tests requested and the dramatic consequences for the patient and his relatives necessitate high quality standards. The laboratories made a division of labour for analysis of most disorders, in order to acquire and maintain expertise in spite of rarity of most hereditary diseases. For adequate handling of requests for DNA diagnostic tests, it is important that the patient material be sent directly to the laboratory specialized in the disorders in question, for the request form to be filled out completely and for the patient data to be stated on the blood tube. A regularly updated review of the DNA diagnostics in the Netherlands can be found on the website: http://www.unimaas.nl/ approximately LOD/lod.htm. This list indications per centre and information such as required material and maximal results deadlines.

摘要

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