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What is the procedure of genetic testing for mutations in BRCA genes? The procedure of genetic testing starts by signing of the document known as informed consent. This document aims to give the patient all necessary information about the testing, about the possible results of the test and about impact of testing results for the patient and his relatives. Also this document gives the right to the physician to get the DNA from the patient for the aims of the specific test only, to perform testing and to inform the patient about the results of the test confidentially. In the case mutations are found in the patient, the physician suggests the patient to consider the possibility of genetic testing in relatives of the patient to avoid the development of the disease in them. Only few milliliters of the peripheral venous blood are required for analysis as in many other common laboratory tests. Afterwards, in the specialized laboratories the minimal amount of the genetic material - DNA is extracted from peripheral blood monocytes (white blood cells). By means of polymerase chain reaction (PCR) and different precision methods of investigation the clinicians determine if the mutations of BRCA1 or BRCA2 gene are present or absent in your sample. Below (Fig. 1) the typical example of the test is shown to demonstrate the presence or absence of the common 5382insC mutation in BRCA1 gene in several patients. Fig. 1. Test for 5382insC mutation presence (lanes 1 and 5) or absence (lanes 2 - 4). PCR amplified fragments of exon 20 of the BRCA1 gene were subjected to electrophoresis and DNA bands were visualized by silver staining.
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