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Hypercoagulability via the presence of congenital risk factors is observed in approximately half of patients with spontaneous venous thrombosis (VTE). Thrombophilia testing is useful when the results of coagulation testing will change anticoagulation therapy and when the thrombosis associated risk is higher than the side effects of anticoagulation. Thrombophilia testing is indicated in patients with increased risk for VTE when no obvious causes for VTE are present. When the decision for or against anticoagulation is already set, thrombophilia testing is also of no value in patients with very low risk for VTE. In other indications for thrombophilia testing such as in patients with estrogen therapy or with recurrent miscarriages, data showing a clinical benefit of thrombophilia testing are currently very limited. Owing to new therapeutic approaches in anticoagulation by new oral anticoagulants, thrombophilia testing will be of interest in patient groups in which anticoagulation was contraindicated previously.

Hypercoagulability via the presence of congenital risk factors is observed in approximately half of patients with spontaneous venous thrombosis (VTE). Thrombophilia testing is useful when the results of coagulation testing will change anticoagulation therapy and when the thrombosis associated risk is higher than the side effects of anticoagulation. Thrombophilia testing is indicated in patients with increased risk for VTE when no obvious causes for VTE are present. When the decision for or against anticoagulation is already set, thrombophilia testing is also of no value in patients with very low risk for VTE. In other indications for thrombophilia testing such as in patients with estrogen therapy or with recurrent miscarriages, data showing a clinical benefit of thrombophilia testing are currently very limited. Owing to new therapeutic approaches in anticoagulation by new oral anticoagulants, thrombophilia testing will be of interest in patient groups in which anticoagulation was contraindicated previously.

Thrombophilia is the disposition for recurrent idiopathic thromboembolism and is currently seen as a multifactorial disease caused by a disbalance of complex regulated hemostasis. Despite intensive diagnostics the exact defect remains unknown in most cases. An established cause that can be diagnosed in 1–2% of affected individuals is a deficiency of protein S which limits thrombin formation as a cofactor of activated protein C. However, the evaluation of pathogenetic relevance of decreased protein S levels is difficult due to the much more often occurring acquired protein S deficiency under certain physiological or pathological circumstances, for example, intake of hormonal contraceptives or systemic inflammation. By adding aggregated genetic data of 136 patients, this publication gives a new perspective on protein S diagnostics and indicates under which circumstances a real, genetic defined deficiency can be postulated with higher probability.

Balancing the partly different needs and expectations of stakeholders is one of the most fundamental tasks of a manager. Therefore, successful managing means identifying and prioritizing the relevant stakeholders, balancing out their needs and interests, and achieving outstanding results. Professional methods have to be used to overcome these challenging tasks. The extensive results of the working group “Laboratory Management” are presented in short. The article focusses on topics such as outcome measures, benchmarking, cost accounting, and business excellence that have been well-known subjects in other sectors for a long time.

Balancing the partly different needs and expectations of stakeholders is one of the most fundamental tasks of a manager. Therefore, successful managing means identifying and prioritizing the relevant stakeholders, balancing out their needs and interests, and achieving outstanding results. Professional methods have to be used to overcome these challenging tasks. The extensive results of the working group “Laboratory Management” are presented in short. The article focusses on topics such as outcome measures, benchmarking, cost accounting, and business excellence that have been well-known subjects in other sectors for a long time.

Background: The objective of this study was to collect and analyze data regarding how molecular genetics laboratories deal in practice with quality assurance, terms of quality and quality requirements shown in the literature. Methods: A 40 multipart question survey based on the requirements of the OECD Guidelines for Quality Assurance in Molecular Genetic Testing 2007 was developed. Data from 144 molecular genetic testing laboratories (MGTLs) in German speaking areas were collected by a mail survey in September 2009 and analyzed with SPSS 15.0 and EXCEL. Results: In total, 144 MGTLs were contacted – 122 MGTLs in Germany, 13 MGTLs in Austria and nine MGTLs in Switzerland. A total of 48 MGTLs participated in the survey (total response rate=33.3%); however, nine of these MGTLs did not fill out the questionnaire owing to restructuring of their laboratory. The 39 responding laboratories reported that they provide four to 400 tests for disorders. Of the respondents, 64.1% indicated that they already have a quality system and 35.9% are in the planning process. Also, 54% of all responding laboratories issue reports of generally high quality, whereas 82.21% indicated that they participate in EMQN (European Molecular Genetics Quality Network) proficiency testing. All respondents required informed written consent prior to presymptomatic and predisposition testing, but six (15.4%) of the respondents declared that they offer prenatal diagnosis without obtaining written informed consent. Conclusions: This study revealed that a variety of stages exist in quality work. Clearly, the focus lies on output quality and integration of the OECD guidelines. The vast development in genetic testing methods indicates current and future challenges for practical quality work.