Abstract: The present disclosure provides methods and compositions for determining whether a patient exhibiting acute gastroenteritis will benefit from treatment with therapeutic agents that inhibit Norovirus genogroup I (GI) or Norovirus genogroup II (GII). The methods disclosed herein are based on detecting Norovirus genogroup I (GI) and Norovirus genogroup II (GII) in a stool sample without extracting viral nucleic acids from a clinical specimen prior to performing real-time reverse transcription PCR. Kits for use in practicing the methods are also provided.

Abstract: Provided herein are methods and compositions for the detection of in-frame deletion germline mutations in the CALR gene. Also provided are methods for determining the prognosis of myeloproliferative diseases and the likelihood of developing somatic mutations in genes involved in the JAK-STAT pathway.

Abstract: Disclosed herein are methods and compositions for detecting Bordetella pertussis and Bordetella parapertussis by detecting the presence of the IS481 and IS1001 genomic insertion sequences, respectively.

Abstract: Provided are methods for the detection or quantitation of amyloid beta. In a particular aspect, provided herein are methods for detecting amyloid beta or fragments thereof by mass spectrometry. In another aspect, provided herein are methods for determining the ratio of amyloid beta 42 (A?42) to amyloid beta 40 (A?40). In another aspect, provided herein are methods for diagnosis or prognosis of Alzheimer's disease or dementia.

Abstract: Methods are described for determining the amount of insulin in a sample. Provided herein are mass spectrometric methods for detecting and quantifying insulin and C-peptide in a biological sample utilizing enrichment and/or purification methods coupled with tandem mass spectrometric or high resolution/high accuracy mass spectrometric techniques. Also provided herein are mass spectrometric methods for detecting and quantifying insulin and b-chain in a biological sample utilizing enrichment and/or purification methods coupled with tandem mass spectrometric or high resolution/high accuracy mass spectrometric techniques.

Abstract: The present disclosure provides methods for determining whether a patient exhibiting cystic fibrosis symptoms, or a patient at risk for cystic fibrosis, will benefit from treatment with one or more anti-cystic fibrosis therapeutic agents. These methods are based on detecting hereditary cystic fibrosis related mutations in small-volume dried biological fluid samples that are collected using a volumetric absorptive microsampling device. Kits for use in practicing the methods are also provided.

Abstract: The present disclosure provides methods for determining whether a patient exhibiting cystic fibrosis symptoms, or a patient at risk for cystic fibrosis, will benefit from treatment with one or more anti-cystic fibrosis therapeutic agents. These methods are based on detecting hereditary cystic fibrosis related mutations in small-volume dried biological fluid samples that are collected using a volumetric absorptive microsampling device. Kits for use in practicing the methods are also provided.

Abstract: Methods for determining the presence or absence of expansion of CGG repeat sequence in the FMR1 gene presence or absence of expansion of CCG repeat sequence in the FMR2 gene are provided. The methods are useful in identifying an individual with normal/intermediate, versus premutation or full mutation allele of FMR1 gene and FMR2 gene due to the expansion of CGG repeats and CCG repeats in the 5?-untranslated region respectively. The methods are also useful for screening newborns for fragile X syndrome or for screening women to determine heterozygosity status with full premutation of the CCG repeat tract. The methods are also useful in estimating the premutation and full mutation carrier frequency and estimating the prevalence of FXTAS AND FXPOI in a population. The methods are simple, rapid and require small amount of sample.

Abstract: Provided are methods for determining the apolipoprotein E (ApoE) phenotype in a sample by mass spectrometry; wherein the ApoE allele(s) present in the sample is determined from the identity of the ions detected by mass spectrometry. In another aspect, provided herein are methods for diagnosis or prognosis of Alzheimer's disease or dementia.

Abstract: Methods are provided for detecting insulin-like growth factor-I (IGF-I) variant(s) in a sample. Methods provided herein are further directed to using the detected ion or ions to determine the presence of IGF1 variant(s) in the sample.

Abstract: The present invention provides novel mutations of the CFTR gene related to cystic fibrosis or to conditions associated with cystic fibrosis. Also provided are probes for detecting the mutant sequences. Methods of identifying if an individual has a genotype containing one or more mutations in the CFTR gene are further provided.

Abstract: The present disclosure provides rapid and non-invasive methods for determining whether a patient exhibiting cancer symptoms, or at risk for hereditary cancers such as breast cancer, ovarian cancer, colon cancer, or skin cancer, will benefit from treatment with one or more therapeutic agents. These methods are based on detecting hereditary cancer-related mutations in small-volume dried biological fluid samples that are collected using a volumetric absorptive microsampling device (e.g., MITRA Tip). Kits for use in practicing the methods are also provided.

Abstract: The present disclosure provides rapid and non-invasive methods for determining whether a patient exhibiting cancer symptoms, or at risk for hereditary cancers such as breast cancer, ovarian cancer, colon cancer, or skin cancer, will benefit from treatment with one or more therapeutic agents. These methods are based on detecting hereditary cancer-related mutations in small-volume dried biological fluid samples that are collected using a volumetric absorptive microsampling device (e.g., MITRA Tip). Kits for use in practicing the methods are also provided.

Abstract: An inventory storage system including a container with an upper surface, a lower surface, a back wall and a front wall facing a width of the upper surface and the lower surface, a first removal slot disposed between the front wall and the lower surface, and a pair of sidewalls facing a length of the upper and lower surfaces. The container includes dividers defining one or more sections. The container includes pens stored within the sections of the container, the pens including at least a subset of first pens and a subset of second pens, with the subset of first pens is below the subset of second pens. The container includes spacers that prevent the subset of second pens from exiting the container via the first removal slot until the subset of first pens exit the container via the first removal slot.

Abstract: The disclosure relates to a genetic inheritance cancer predisposition panel utilizing targeted capture-based next-generation sequencing—the panel incorporates genes underlying well-characterized cancer syndromes and those associated with increased cancer risk. The disclosure further relates to methods of utilizing the genetic inheritance cancer predisposition panel for determining a cancer risk assessment for individuals with hereditary cancers and/or cancer syndromes.

Abstract: Provided herein are methods for the diagnosis, or management of liver diseases, e.g., hepatocellular carcinoma, using profiles of the miRNAs determined from cellular or acellular body fluids.

Abstract: The present technology relates to methods for diagnosing, monitoring the progression of, assessing the efficacy of treatment of, or assessing risk for development of a neurodegenerative disorder in a patient. These methods are based on determining the ratio of ?-amyloid 42 (“A?42”) to ?-amyloid 40 (“A?40”) in a body fluid sample collected from a patient who has or is suspected of having a neurodegenerative disorder, using an improved and highly sensitive multiplex protein assay that simultaneously detects A?42 and A?40.

Abstract: The present technology provides polynucleotide compositions and methods of using the same to detect circulating tumor DNA (ctDNA) in a patient. Kits for use in practicing the methods are also provided.

Abstract: A system (100) for classifying a biological test sample, including a database (112) populated with reference expression data. The reference expression data includes expression levels of a plurality of molecules (polynucleotides or polypeptides), including a set of marker molecules, in a plurality of reference samples. Each reference sample has a pre-assigned value for each of one or more clinically significant variables. The system includes at least one processor (110) and at least one storage medium containing program instructions for execution by said processor (110). The program instructions cause the processor to accept (122) input expression data including a test vector of expression levels of the marker molecules in the biological test sample; and pass the input expression data to one or more analysis programs (130a, 130b, 135).

Abstract: The present disclosure describes a sequencing system configured to identify structural variants in mitochondrial DNA. Variant callers configured to identify variants in linear genomes (e.g., those found in chromosomes) can fail to properly identify structural variants in mitochondrial DNA. The system and methods can identify structural variants in next generation sequencing data collected from circular, mitochondrial DNA.