The present invention provides novel mutations identified in the cystic fibrosis transmembrane conductance regulator (CFTR) gene that can be used for a more accurate diagnosis of cystic fibrosis (CF) and CF related disorders. Methods for testing a sample obtained from a subject to determine the presence of one or more mutations in the CFTR gene are provided wherein the presence of one or more mutations indicates that the subject has CF or a CF related disorder, or is a carrier of a CFTR mutation.

Disclosed are a rigorous method and apparatuses for the comprehensive analysis of complex mixtures of organic molecules, specifically biopolymers, in some embodiments predominantly mixtures of proteins, which in some embodiments ultimately serve to obtain the information constituting a biomarker, or similar biological signature, or to monitor health or ageing.

In some embodiments such signatures or patterns may indicate the presence, stage, or type of a disease, the expected or actual response to drugs. In some other embodiments such a method and apparatuses may serve to monitor and/or control cell development. In some other embodiments such a method and apparatuses may serve to develop and use means to measure, influence, or control the speed or degree of aging of cells or organisms.

In some embodiments such a method and apparatuses may serve to determine at least in part the nature of biological hazards, bioterrorism threats, or biological weapons, including those based on bacteria and viruses. In some embodiments such a method and apparatuses may serve to select, develop, and or optimize countermeasures to biological hazards, bioterrorism threats, or biological weapons, including those based on bacteria and viruses.

In other embodiments such a method and apparatuses may be used to asses the expected performance level of a human or animal for a specific task or for a class or problems.

Disclosed are a rigorous method and apparatuses for the comprehensive analysis of complex mixtures of organic molecules, specifically biopolymers, in some embodiments predominantly mixtures of proteins, which in some embodiments ultimately serve to obtain the information constituting a biomarker, or similar biological signature, or to monitor health or ageing.

In some embodiments such signatures or patterns may indicate the presence, stage, or type of a disease, the expected or actual response to drugs. In some other embodiments such a method and apparatuses may serve to monitor and/or control cell development. In some other embodiments such a method and apparatuses may serve to develop and use means to measure, influence, or control the speed or degree of aging of cells or organisms.

In some embodiments such a method and apparatuses may serve to determine at least in part the nature of biological hazards, bioterrorism threats, or biological weapons, including those based on bacteria and viruses. In some embodiments such a method and apparatuses may serve to select, develop, and or optimize countermeasures to biological hazards, bioterrorism threats, or biological weapons, including those based on bacteria and viruses.

In other embodiments such a method and apparatuses may be used to asses the expected performance level of a human or animal for a specific task or for a class or problems.

In order to quantitatively analyze nucleic acids present in a sample or a complex medium, a nucleic acid extraction or purification process is required. However, the yield of nucleic acid extraction and purification is greatly variable depending on the purification principle and the characteristics of kit and sample used. Hence, efficient normalization of nucleic acid extraction and purification yield is a prerequisite for accurate quantitative analysis of nucleic acid based on the original sample. The present invention relates to a quantitative analysis method of a nucleic acid present in a sample or a complex medium without amplification of a target nucleic acid.

In order to quantitatively analyze nucleic acids present in a sample or a complex medium, a nucleic acid extraction or purification process is required. However, the yield of nucleic acid extraction and purification is greatly variable depending on the purification principle and the characteristics of kit and sample used. Hence, efficient normalization of nucleic acid extraction and purification yield is a prerequisite for accurate quantitative analysis of nucleic acid based on the original sample. The present invention relates to a quantitative analysis method of a nucleic acid present in a sample or a complex medium without amplification of a target nucleic acid.

Described herein are methods of analyzing and producing RNA compositions, e.g., mRNA compositions, that include determining the amount of a polyA chain length and/or 5 the relative distribution of polyA chain lengths in a sample from the RNA composition using mass spectrometry, e.g., LC-MS or MALDI-MS.

Described herein are methods of analyzing and producing RNA compositions, e.g., mRNA compositions, that include determining the amount of a polyA chain length and/or 5 the relative distribution of polyA chain lengths in a sample from the RNA composition using mass spectrometry, e.g., LC-MS or MALDI-MS.

A method, apparatus, and/or computer program product that matches a treatment profile (e.g. drug treatment at a particular dosage and timeframe) to a sample of biological material (e.g. blood sample, etc.). A mass spectrometry spectrum may be generated from a matrix-assisted laser desorption ionization time of flight mass spectrometer (MALDI-TOF MS) device from the testing of a sample of biological material that includes at least one pathogen (e.g. bacteria, microorganism, virus, etc.). This received mass spectrometry spectrum may be matched by a diagnostic unit to determine the species of the pathogen against a species database. The species database may include predetermined mass spectrometry spectrums of known species of pathogens. Based on the matched species of pathogen, a diagnostic unit may match the received mass spectrometry spectrum of the sample of biological material to at least one treatment profile from a second reference database of predetermined mass spectrometry spectrums.

The invention relates to the use of inductively coupled plasma mass spectroscopy for cellular sample analysis. In some embodiments a method of performing mass spectroscopy analysis using an inductively coupled plasma mass spectroscopy system is provided. The method may include introducing a cellular sample comprising one or more cells or cellular particles into an inductively coupled plasma of the inductively coupled plasma mass spectroscopy system. The method may further include using the inductively coupled plasma mass spectroscopy system to assess the cellular sample by detecting and measuring one or more element tags in the cellular sample based on the element or isotopic compositions of the one or more element tags.

The invention relates to the use of inductively coupled plasma mass spectroscopy for cellular sample analysis. In some embodiments a method of performing mass spectroscopy analysis using an inductively coupled plasma mass spectroscopy system is provided. The method may include introducing a cellular sample comprising one or more cells or cellular particles into an inductively coupled plasma of the inductively coupled plasma mass spectroscopy system. The method may further include using the inductively coupled plasma mass spectroscopy system to assess the cellular sample by detecting and measuring one or more element tags in the cellular sample based on the element or isotopic compositions of the one or more element tags.