Researchers led by Weill Cornell Medical College's Hanna Rennert report in the Journal of Molecular Diagnostics that long-range PCR is better than direct sequencing and screening for evaluating PKD1 and PKD2 mutations in polycystic kidney disease. They found that their approach of sequencing LR-PCR fragments covering the PKD1 gene had a sensitivity of 100 percent, a specificity of 98.5 percent, and an accuracy of 98.8 percent when compared to direct sequencing done by a reference laboratory, and a sensitivity of 97.1 percent, a specificity of 100 percent, and an accuracy of 99.4 percent when compared to the Surveyor-Wave Nucleic Acid High Sensitivity Fragment Analysis System from Transgenomic. "The LR PCR sequencing method has several advantages for the detection of PKD gene variants, including high sensitivity, improved intronic coverage, faster turnaround time, and lower cost, providing a reliable tool of genetic analysis of complex genes and repetitive sequences," Rennert and her colleagues write.
Also in the Journal of Molecular Diagnostics, researchers from Johns Hopkins University School of Medicine report using a DNA sequencing approach to identify filamentous fungi — they used a SmartGene approach to target the D1/D2 region of the large subunit of the 28S rDNA gene and the ITS region of the fungi for identification. Additionally, they assessed the accuracy of that approach and of using the SmartGene proofreaders and database. "The SG software and database is an acceptable tool to be used in a clinical laboratory for fungal DNA sequencing analysis. It is anticipated that this will allow clinicians to choose more appropriate antifungal therapy based on organism identification, resulting in improved patient outcomes," they say.