ABSTRACT
BACKGROUND: Mutations in the gene encoding transforming growth factor-beta induced (TGFBI) are associated with corneal dystrophies. We evaluated the diagnostic performance of the GENEDIA Avellino corneal dystrophy (ACD) mutation detection kit and GENEDIA corneal dystrophy screening master mix (Green Cross Medical Science Co., Korea) by comparing it with an in-house sequencing method. METHODS: The study group consisted of 40 patients with Avellino corneal dystrophy (ACD) and 40 patients suspected to suffer from ACD; 40 healthy individuals were used as the control. All samples used for this study were previously obtained. All results obtained using the kit were evaluated for sensitivity, specificity, and detection limit. RESULTS: The sensitivity of the GENEDIA ACD kit was 100.0% with a positive mean+/-2SD Ct (cycle threshold) value of 25.87+/-1.24 and an excellent coefficient of variation value of 0.02 in ACD group. All normal control samples were negative, indicating a specificity of 100% for the GENEDIA kit. The detection limit was set at a DNA concentration of >0.2 ng/microL. Direct sequencing results obtained using the GENEDIA master mix and the in-house method agreed for all 20 ACD samples. Additional R555W mutation detected in four ACD-suspected samples were suggestive of the diagnosis of granular corneal dystrophy type I. CONCLUSIONS: The GENEDIA ACD detection kit and master mix showed acceptable results, demonstrating high sensitivity and specificity, and may be considered for clinical application. Furthermore, the GENEDIA master mix was useful for the detection of mutations in exons 4 and 12 of the TGFBI gene.
Subject(s)
Humans , Diagnosis , DNA , Exons , Limit of Detection , Mass Screening , Methods , Real-Time Polymerase Chain Reaction , Sensitivity and SpecificityABSTRACT
BACKGROUND: The performance of Cell-Dyn Sapphire (Abbott Diagnostic, USA) was compared to the Bayer Advia 2120 (Bayer Diagnostics, USA), Sysmex XE-2100 (Sysmex Corporation, Japan), and reference microscopy. METHODS: Three hundred samples for routine CBC and WBC differentials were randomly chosen for a comparison analysis. The Cell-Dyn Sapphire system was evaluated according to the linearity, imprecision, inter-instrument correlations, and white blood cell differential. RESULTS: The CBC parameters (WBC, RBC, hemoglobin and platelet) showed a significant linearity with correlation coefficients greater than 0.99 (P<0.0001). Coefficients of variation (CV) for withinrun and differential count of WBC were less than 5% except for Total CV for monocytes, eosinophils, and basophils and within-run CV for low valued eosinophils. The correlation coefficients with manual count were lower in monocytes, eosinophils, and basophils than in neutrophils and lymphocytes. The correlation with other hematology anlayzers was significant exclusive of basophils. CONCLUSIONS: These results demonstrate that the Cell-Dyn Sapphire has a good linearity, an acceptable reproducibility, a minimal carryover, and a comparable performance with the sysmex XE-2100 and Advia 2120.