Polycystic Kidney Disease Assay at Cornell University Uses Transgenomic’s Surveyor Nuclease & WAVE Technology
“This paper is further validation of scanning technology based upon Surveyor Nuclease and the WAVE System.” said Dr.
“We have been able to make effective use of Transgenomic’s DNA analysis technologies to develop a screening assay for PKD1 and PKD2 that is comparable in sensitivity and specificity to DNA sequencing” said Dr
ADPKD occurs at a rate of 1/1000 in the US population, affecting 500,000 people in the US and, worldwide, about 10 million. It is the most commonly inherited kidney disease. In 85% of ADPKD cases, the disease is caused by altered polycystin proteins, encoded by the PKD1 and PKD2 genes. As diagnosis in young people can be ambiguous, genetic analysis gives a strong indication of disease prognosis. Current analysis by DNA sequencing alone is very complex and expensive due to the size of the genes and the variety of mutations involved.
Transgenomic’s SURVEYOR Nuclease is a proprietary mismatch-specific endonuclease that efficiently detects any mismatches in double-stranded DNA and cleaves at the site of DNA mutations. It identifies all base substitutions, insertions and deletions and can detect multiple mutations in a single fragment, in individual or even pooled PCR samples. By pre-screening with Surveyor Nuclease, the complexity, cost and time for analysis is significantly reduced. Additionally, information is gained about the site of a mutation, allowing more accurate DNA sequence analysis when any given mutant allele is present at below 25% compared to the normal allele. SURVEYOR Nuclease’s effectiveness in disease specific mutation discovery has been well documented in many peer-reviewed publications.
Transgenomic is a global biotechnology company that provides unique products and services for automated high sensitivity genetic variation and mutation analysis. Their offerings include systems, products, discovery and laboratory testing services to the academic and medical research, clinical laboratory and pharmaceutical markets in the fields of Pharmacogenomics and personalized medicine. Specific offerings include WAVE(R) DHPLC Systems, related consumables and assay kits, Cytogenetics automated systems, and Transgenomic Pharmacogenomics and Reference Laboratory Services. Transgenomic Pharmacogenomics and Laboratory Services utilize their technology and expertise to provide a menu of mutation scanning tests for over 700 cancer-associated genes and more than 60 validated diagnostic tests to meet the needs of pharmaceutical and biotech companies, research and clinical laboratories, physicians and patients. For more information about the innovative systems, products and services offered by Transgenomic, please visit: www.transgenomic.com.
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SOURCE Transgenomic, Inc.