Asuragen, Inc. announced that the results of an international, multi-center validation study on its ARQ IS Calibrator Panels have been published online and will appear in Clinical Chemistry. The study, performed in collaboration with clinical laboratories in Australia, Canada, Brazil, Germany, Italy, Korea, Spain, the UK and the USA, shows that secondary reference panels calibrated to the primary standards of the World Health Organization (WHO) can facilitate the standardization of BCR-ABL1 RT-qPCR results on the international scale (IS). Monitoring of residual disease in chronic myeloid leukemia (CML) patients undergoing tyrosine kinase inhibitor therapy is performed in clinical laboratories worldwide using a variety of RT-qPCR technologies, platforms, assay designs and calibration materials. The IS was established to standardize the reporting of BCR-ABL1 quantitative measurements on a single unit and harmonize the definition of clinically-validated treatment response criteria in CML. The ARQ IS Calibrator Panels are commutable secondary standards based on Asuragen's Armored RNA(R) technology that provide a means for testing laboratories to align the results of their molecular assays to the IS reference values of the 1st WHO International Genetic Reference Panel for quantitation of BCR-ABL1 translocation by RT-qPCR.

Asuragen, Inc. announced the launch of its SuraSeq Next Generation Sequencing Service in its GLP compliant Genomics Services Laboratory. Asuragen's SuraSeq NGS Service was developed specifically for targeted DNA mutation analysis from FFPE and FNA tumor samples to identify both known and de novo mutations. The Service features the SuraSeq 200 and the SuraSeq 500 cancer panels which target clinically relevant cancer-related molecular pathways, such as the MEK/MAP kinase and PIK3/AKT pathways. In addition, Asuragen scientists have amassed quantitative and predictive QC data from more than 700 real-world FFPE and FNA tumor samples, and this information has been integrated into the sequencing approach to best guide clients in their experimental decision-making. A recent publication in the Journal of Molecular Diagnostics describes the validation of the two-step PCR enrichment work used with the SuraSeq 500 panel. This project was funded in part by a Cancer Prevention and Research Institute of Texas (CPRIT) Commercialization grant.

Asuragen, Inc. announced results from a study demonstrating that a new molecular test called Xpansion Interpreter(R) can improve the determination of a woman's risk of having a child with fragile X syndrome, the most common inherited cause of intellectual disability and autism, compared to existing risk measures. The Xpansion Interpreter Test is based on a technology breakthrough that reveals both the number and position of "interrupting" DNA sequences in the fragile X gene of the mother and more accurately estimates the likelihood that her child will have fragile X syndrome. The study will be published in the April issue of the American Journal of Medical Genetics and presented on March 21, 2013 at the 2013 American College of Medical Genetics and Genomics Annual Clinical Genetics Meeting in Phoenix, AZ. Fragile X syndrome is caused by a mutation in the FMR1 gene that alters the production of a protein required for normal brain development. The mutation is the result of a small part of the genetic code (CGG) being repeated on a fragile area of the X chromosome. Repeat CGG sequences are categorized into four classes based on repeat length: normal (<45 repeats); intermediate (45-54 repeats); premutation (55-200 repeats); and full mutation (>200 repeats). The results revealed that the number and position of AGG interruptions, coupled with total number of CGG repeats, provide significant improvements over current risk estimates in predicting fragile X gene instability and expansion to a full fragile X mutation. All nine transmissions of the full fragile X expansion mutation in the study were from mothers with CGG repeat regions lacking AGG sequences.