Designing and validating an autoverification system of biochemical test results in Hatay Mustafa Kemal University, clinical laboratory.

Introduction: Autoverification (AV) is a postanalytical tool that uses algorithms to validate test results according to specified criteria. The Clinical and Laboratory Standard Institute (CLSI) document for AV of clinical laboratory test result (AUTO-10A) includes recommendations for laboratories needing guidance on implementation of AV algorithms. The aim was to design and validate the AV algorithm for biochemical tests. Materials and methods: Criteria were defined according to AUTO-10A. Three different approaches for algorithm were used as result limit checks, which are reference range, reference range ± total allowable error, and 2nd and 98th percentile values. To validate the algorithm, 720 cases in middleware were tested. For actual cases, 3,188,095 results and 194,520 reports in laboratory information system (LIS) were evaluated using the AV system. Cohen's kappa (κ) was calculated to determine the degree of agreement between seven independent reviewers and the AV system. Results: The AV passing rate was found between 77% and 85%. The highest rates of AV were in alanine transaminase (ALT), direct bilirubin (DBIL), and magnesium (Mg), which all had AV rates exceeding 85%. The most common reason for non-validated results was the result limit check (41%). A total of 328 reports evaluated by reviewers were compared to AV system. The statistical analysis resulted in a κ value between 0.39 and 0.63 (P < 0.001) and an agreement rate between 79% and 88%. Conclusions: Our improved model can help laboratories design, build, and validate AV systems and be used as starting point for different test groups.

Presentation of two new mutations in the 3'untranslated region of the ß-globin gene and evaluating the molecular spectrum of thalassemia mutations in the Mediterranean region of Turkey.

Thalassemia is a common genetic disorder. We aimed to present thalassemia mutation data that covers a period of 7 years from the Mediterranean region of Turkey by comparing with hemoglobin indices and to contribute to prenatal diagnosis and genetic counseling studies which should be decided very quickly. In this study, in which a retrospective archive was scanned, the cases were first grouped as α and ß thalassemia, and then ß thalassemia mutations were examined in a total of 5 groups as UTR-Pro, Codon, IVS, ß0, and ß+. We have reached the family of the proband that analyzed their Hb indices and genetic mutation. All mutations were statistically compared with Hb indices, HbF, and HbA2. We have identified two new ß thalassemia mutations that have the feature of not being defined previously [HBB:C*62 A>G. (3'UTR+1536 A>G) and HBB:C*1 G>A (3'UTR+1475 G>A)]. The most commonly encountered 23 mutations account for 74.7% of all mutations which is unlike the literature. In the ß thalassemia group, 73 different mutations were detected. The most common ß thalassemia mutation was HBB: c.93-21 G>A (IVS I-110 G>A) with a frequency of 19.72%. A statistically significant difference was found when comparing the mutation groups with Hb indices. We think that it may be useful to evaluate the mutations we have newly identified too together with the Hb indices especially in evaluating the carriers of thalassemia and it will contribute to prenatal diagnosis and genetic counseling studies which should be decided very quickly.