122 results about "Genetic Screening (procedure)" patented technology

This invention provides compositions and methods for genetic testing of an organism and for correlating the results of the genetic testing with a unique marker that unambiguously identifies the organism. The markers may be internal markers, such as for example single nucleotide polymorphisms (SNPs), short tandem repeats (STRs), or other sites within a genomic locus. Alternatively, the markers may be external, such that they are separately added to the genetic sample before testing.

We describe a method for interrogating the content and primary structure of DNA by microarray analyses and to provide comprehensive genetic screening and diagnostics prior to embryo transfer within an IVF setting. We will accomplish this by the following claims: 1) an optimized embryo grading system, 2) a less invasive embryo biopsy with reduced cellular contamination, 3) an optimized DNA amplification protocol for single cells, 4) identify aneuploidy and structural chromosome abnormalities using microarrays, 5) identifying sub-telomeric chromosome rearrangements, 6) a modified DNA fingerprinting protocol, 7) determine imprinting and epigenetic changes in developing embryos, 8) performing genome-wide scans to clarify / diagnose multi-factorial genetic disease and to determine genotype / haplotype patterns that may predict future disease, 9) determining single gene disorders with or without a known DNA mutation, 10) determining mtDNA mutations and / or the combination of mtDNA and genomic (nuclear) DNA aberrations that cause genetic disease.

A nucleic acid probe for classification of pathogenic bacterial species is capable of collectively detecting bacterial strains of the same species and differentially detecting them from other bacterial species. Any one of the base sequences of SEQ ID NOS. 90 to 91 and complementary or modified sequences thereof or a combination of at least two of them is used for detecting the gene of an infectious disease pathogenic bacterium.

A nucleic acid probe for classification of pathogenic bacterial species is capable of collectively detecting bacterial strains of the same species and differentially detecting them from other bacterial species. Any one of the base sequences of SEQ ID NOS. 87 to 89 and complementary or modified sequences thereof or a combination of at least two of them is used for detecting the gene of an infectious disease pathogenic bacterium.

A small sized, cost-effective genetic testing apparatus that provides high sensitivity testing, for performing genetic testing simply and at low cost. An optical sensor array for the apparatus and method for luminometric assay comprises a means that simultaneously selects 2 pixels and detects minute amounts of chemiluminescence by obtaining the differential output of the respective signals.

A nucleic acid probe for classification of pathogenic bacterial species is capable of collectively detecting bacterial strains of the same species and differentially detecting them from other bacterial species. Any one of the base sequences of SEQ ID NOS. 92 to 93 and complementary or modified sequences thereof or a combination of at least two of them is used for detecting the gene of an infectious disease pathogenic bacterium.

A method of diagnosing heritable arrhythmia syndrome in a patient is disclosed. In one embodiment, the method comprises the steps of (a) isolating a nucleic acid sample from the patient and (b) comparing the nucleic acid sample to the compendium of novel DNA mutations disclosed in Table 1, wherein the comparison is to the mutations described from at least one of the genes selected from the group consisting of KCNQ1, KCNH2, SCN5A, and KCNE2.

A nucleic acid probe for classification of pathogenic bacterial species is capable of collectively detecting bacterial strains of the same species and differentially detecting them from other bacterial species. Any one of the base sequences of SEQ ID NOS. 56 to 58 or a combination of at least two of them is used for detecting the gene of an infectious disease pathogenic bacterium.

A nucleic acid probe for classification of pathogenic bacterial species is capable of collectively detecting bacterial strains of the same species and differentially detecting them from other bacterial species. Any one of the base sequence of SEQ ID NO. 94 and complementary or modified sequences thereof or a combination of at least two of them is used for detecting the gene of an infectious disease pathogenic bacterium.

A nucleic acid probe for classification of pathogenic bacterial species is capable of collectively detecting bacterial strains of the same species and differentially detecting them from other bacterial species. Any one of the base sequences of SEQ ID NOS. 59 to 61 or a combination of at least two of them is used for detecting the gene of an infectious disease pathogenic bacterium.

A nucleic acid probe for classification of pathogenic bacterial species is capable of collectively detecting bacterial strains of the same species and differentially detecting them from other bacterial species. Any one of the base sequences of SEQ ID NOS. 78 to 80 and complementary or modified sequences thereof or a combination of at least two of them is used for detecting the gene of an infectious disease pathogenic bacterium.

A method for concentrating and isolating nucleated cells, such as maternal and fetal nucleated red blood cells (nRBCs), in a maternal whole blood sample. The invention also provides methods and apparatus for preparing to analyze and analyzing the sample for identification of fetal genetic material as part of prenatal genetic testing. The invention also pertains to methods and apparatus for discriminating fetal nucleated red blood cells from maternal nucleated red blood cells obtained from a blood sample taken from a pregnant woman.

Disclosed are methods and kits for conducting anonymous genetic testing. The methods and kits include provide a patient with an Alias ID and Password. The Alias ID is used to track a genetic sample from the patient. Both the Alias ID and Password are then used by the patient to obtain the results of the genetic test. The methods and kits allow a patient to have a genetic test performed while remaining anonymous.

A nucleic acid probe for classification of pathogenic bacterial species is capable of collectively detecting bacterial strains of the same species and differentially detecting them from other bacterial species. Any one of the base sequences of SEQ ID NOS. 87 to 89 and complementary or modified sequences thereof or a combination of at least two of them is used for detecting the gene of an infectious disease pathogenic bacterium.

The workflow application integrates with a research software application associated with a laboratory instrument to provide a user with step-by-step instructions on how to follow the workflow steps of a laboratory experiment. The instructions are dynamically tailored, according to the nature of the workflow, the samples being experimented upon and / or the operating states of the instrument and / or the research software application. The workflow application significantly reduces the learning curve to operate sophisticated laboratory instruments. In a genetic testing instrument the workflow application can prescribe the need for control samples and can optimize the layout of samples within the instrument's sample receiving plate or fixture.

A nucleic acid probe for classification of pathogenic bacterial species is capable of collectively detecting bacterial strains of the same species and differentially detecting them from other bacterial species. Any one of the base sequences of SEQ ID NO. 55 or a combination of at least two of them is used for detecting the gene of an infectious disease pathogenic bacterium.

The present invention relates to a quick and simple method for genetic testing, particularly for SNP testing, using two kinds of primers which are complementary to a mutant target and a wild-type target, respectively, and different in length or migration speed in electrophoresis. These probes are allowed to hybridize with targets, fluorophore-tagged nucleotides are attached to the primers, and electrophoresis is carried out for discriminatory detection.

The invention belongs to the field of genetic testing and provides a peritoneal metastasis prediction model of a gastric cancer based on 22 genes and application thereof, including PCLO, UGGT1, ZNF714, KIAA0825, COL23A1, MED1, NPAS2, TTC14, RPS27A, ASPH, ARHGEF12, SIK1, PAPPA, HHIPL1, MYO9B, ITPKB, ZNF862, MKNK1, MUC6, TRRAP, DUOX1 and KRTAP5-2; a risk of peritoneal metastasis is predicted effectively and specifically, according to SVM of a selected classifier and a positive judgment threshold value of 0.5. The application of the gene model of the invention is helpful for predicting the metastasis of patients with gastric cancer and has important value and significance for taking timely and effective clinical measures, making an individualized diagnosis and treatment plan and finally improving a survival rate of the patients with the gastric cancer.

A method for concentrating and isolating nucleated cells, such as maternal and fetal nucleated red blood cells (nRBCs), in a maternal whole blood sample. The invention also provides methods and apparatus for preparing to analyze and analyzing the sample for identification of fetal genetic material as part of prenatal genetic testing. The invention also pertains to methods and apparatus for discriminating fetal nucleated red blood cells from maternal nucleated red blood cells obtained from a blood sample taken from a pregnant woman.

This invention provides compositions and methods for genetic testing of an organism and for correlating the results of the genetic testing with a unique marker that unambiguously identifies the organism. The markers may be internal markers, such as for example single nucleotide polymorphisms (SNPs), short tandem repeats (STRs), or other sites within a genomic locus. Alternatively, the markers may be external, such that they are separately added to the genetic sample before testing.

The invention belongs to a novel pulmonary artery hypertension treatment drug screening technology established by applying a stem cell technology; with a BMP signal downstream key gene Id1 as a target spot, a double-report-gene original is designed and inserted into an Id1 genome to construct a restructuring carrier, the carrier is transferred into a human embryonic stem cell strain, and a stable-expression CGMCC11091 cell strain is obtained; the CGMCC11091 cell strain is stimulated by a to-be-tested anti pulmonary artery hypertension compound, then cells are cracked by a cell cracking fluid, according to a genetic testing system, the method detects luciferase expression activity, with the Id1 promoter driven double-report-gene expression quantity as an indicator, and a pulmonary artery hypertension treating compound screening model having Id1 expression up-regulated is obtained. The invention also discloses an application of the model in screening regulators for up-regulation of bone morphogenetic protein (BMP) signals, regulators for up-regulation of expression level of BMP-2 acceptors, preparations for improving the pulmonary artery blood hemodynamics, preparations for improving pulmonary vascular reconstitution, pulmonary artery hypertension treatment drugs and cardiopulmonary vascular disease treatment drugs.

The invention discloses an LAMP-based visual fluorogenic and chromogenic genetic testing method for microorganisms, which relates to a genetic testing method for microorganisms. The testing method includes the following steps: (1) buffered peptone water (BPW) is used for culturing a sample to be tested according to a national standard method for 4 hours; (2) a water boiling method is used for extracting DNA (deoxyribonucleic acid) from the sample to be tested; (3) the DNA is added into an LAMP reaction system, and the temperature of 65 DEG C is kept for 1 hour; (4) by means of comparison with a control group, the result of the sample to be tested is observed with naked eyes, and qualitative analysis is carried out on the sample. Compared with the conventional culture method, the genetic testing method has the advantages that: testing is rapid, only taking 5 hours, and plus the extraction of the sample DNA, testing takes less than 6 hours in total; the specificity is good, and the sensitivity is high; the steps are simple, and the repeatability is high; and a plurality of samples can be tested at the same time. The genetic testing method can qualitatively test microorganisms, and can take the place of the conventional culture method and the serological testing method which are used up to now.

Provided are methods for amplifying a gene or RNA or sets thereof of interest using a tandem PCR process. The primers in the first PCR or set of PCR reactions are locus-specific. The primers in the second PCR or set of PCR reactions are specific for a sub-sequence of the locus-specific primers and completely consumed during the second PCR amplification. For RNA amplification, the first PCR is reverse transcription and the resulting cDNA(s) provide a template for cRNA synthesis, endpoint PCR or real time PCR. Also provided is a tandem PCR method which accepts raw, completely unpurified mouthwash, cheek swabs and ORAGENE™-stabilized saliva as the sample input, the resulting amplicons serving as the substrate for complex, microarray-based genetic testing. Also provided is a method of allelotyping a gene or set thereof by amplifying the gene(s) using tandem PCR on DNA or RNA comprising the sample.

Computerized methods and systems for creating and documenting protocol orders in a molecular diagnostic laboratory environment are provided. Utilizing the methods and systems described herein, protocol statements may require values to be entered in association therewith prior to permitting access to subsequent protocol orders. Accordingly, more accurate test runs and, consequently, more accurate test results, may be achieved. Additionally, as values associated with protocol statements are electronically captured, in accordance with embodiments hereof, such values may be searched to evaluate trends or identify protocol orders and / or results that may be affected by a later discovered error or the like. Moreover, backing up a protocol order includes providing a backup protocol order for selection, in the event that an alternative test result is desired.

The invention relates to the field of genetic testing, and specifically relates to a kit used for detecting the copy number of survival genes of human motor neurons. According to the kit used for detecting the copy number of the survival genes of the human motor neurons, a multifluorescent polymerase chain reaction (PCR) method is adopted for detecting the copy number of the survival genes of thehuman motor neurons; and specific primers and probes for exons 7 and 8 of SMN1 gene, exons 7 and 8 of SMN2 gene, exon 6 of SMN gene and internal reference gene cystic fibrosis transmembrane regulator(CFTR) are separately designed. The kit is smartly designed, so that, relative quantifying can be separately performed on the copy number of the exons 7 and 8 of the SMN1 gene, the exons 7 and 8 of the SMN2 gene as well as the exon 6 of the SMN gene by adopting 3 independent PCR reactions. The kit is easy to operate, strong in specificity and excellent in sensitivity. Thus, the result of the copynumber of the exon 6 of the SMN gene can be improved in terms of accuracy; so that, the kit is more suitable for clinical classifying of patients with spinal muscular atrophy and screening of carriers.

Prenatal genetic testing allows early detection of genetic disease in a fetus. Described herein are methods of detecting the presence or absence of a genetic variant in a region of interest in the genome of a fetus in a pregnant woman. The methods are noninvasive, and can use cell-free DNA (cfDNA) present in the plasma of the pregnant woman. A DNA library is constructed from the cfDNA, and DNA molecules comprising the region of interest or portions thereof are enriched and analyzed, for example by sequencing. The methods described herein can also rely on constructing a maternal haplotype to provide even higher resolution fetal genetic variant determination.

This invention describes a method and site for providing genetic testing using the Internet which enables individuals to access genetic testing as well as methods that ensure privacy in the selection of genetic tests, payment, performance of tests, delivery of results, interpretation of results, and genetic counseling. These methods will increase the utilization of genetic testing by individuals.

The present invention provides a genetic testing system that ensures complete traceability of animals and food products and involves a method of uniquely identifying animals for data collection, records management and retrieval purposes involving a novel method of genetic analysis using individual DNA fingerprinting of parentage of individual animal to effectively provide for full traceability of animals from birth to consumption.

Systems and methods may be provided for the generation, online viewing and display of the level of significance, and printing of reports created by the analysis and diagnosis of DNA, mRNA, protein derived from blood, urine, stool, tissue and organ specimens provided to clinical laboratories by client / physicians. These reports graphically and tabularly indicate the severity, diagnosis and prognosis of the specimen and include visual analysis, textual analysis, prognostic and treatment information. Systems and methods are also provided for the generation, online viewing and printing of prognostic fact sheets that are related to other disease states based on the genetic testing results of a specimen, and for the generation, online viewing and printing of comprehensive patient genotype result and drug recommendation by specialty.