Nadezhda hospital’s Genetics lab offers a broad spectrum of tests, mainly related to the diagnosis of infertility, such as karyotyping, DNA analysis for Y-chromosome microdeletions, hereditary thrombophilias, CFTR-mutations, FMR1-gene analysis; prenatal genetic diagnosis by amniocentesis, chorionic villus sampling (CVS) or non-invasive prenatal testing (NIPT); complete products of conception (POC) chromosome analysis. The lab offers testing for monogenic disorders, screening for the most frequent hereditary genetic disorders, screening for various cancer predispositions, and whole exome analysis.
For most genetic analyses, peripheral blood is used, and only rarely a buccal swab or saliva. There are no restrictions based on whether the patients are sick at the moment, or use medications, alcohol, etc. It is recommended that they have eaten 30 to 60 minutes before the blood draw, as this causes a temporary increase of leukocytes in peripheral blood, and those are the cells used to obtain genetic material for analysis.
Results are typically reported within three to four weeks. In some cases, they take longer – about six weeks. You can get your results in person at the Registration Desk or from your treating physician.