Genetic test apparatus and method
First Claim
1. A method of performing genetic testing in a telemedicine model, in which test results are transmitted to a central location at which expertise in interpretation of genetic testing resides.
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Abstract
The invention involves creation of an integrated genetic testing kit. The kit combines materials and components to aid in performance of each of the steps in a genetic assay. Additionally, the invention describes a variety of electronic tools and adjunct materials to make easier the collection and organization of patient related information that is used in interpretation of the analytic genetic data. One aspect of this invention is as a stand-alone integrated test kit, the test results of which may be in the form of fluoroscopic output. Another aspect of this invention is a telemedicine model. In this model, the invention is a larger genetic testing system in which procurement of genetic material, its testing, and its interpretation may occur at different locations. The telemedicine model comprises the integrated kit, instrumentation, and an electronic transmission system for delivery of the genetic test data to a remote data system where it is interpreted and a report is generated.
125 Citations
90 Claims
- 1. A method of performing genetic testing in a telemedicine model, in which test results are transmitted to a central location at which expertise in interpretation of genetic testing resides.
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2. A method of genetic testing in which genetic source material is tested at a location different from a location at which analysis of results of the testing and preparation of interpretive genetic testing reports occurs.
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3. A genetic test data gathering process that, automatically or as initiated by a remote site or central location, gathers from a remote site database genetic data relevant to a desired genetic test to be performed at the remote site and subsequently interpreted at the central location.
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4. An interpretive report generator:
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(a) a database 823, accessible by an expert system 650, the database containing genetic reference information 818;
(b) a clinical data collection system 300 containing patient data 407, the clinical data collection system accessible to the database for storage of the patient data in the database;
(c) the expert system comprising a control mechanism for (i) inspecting the patient data in the database, (ii) searching the genetic reference information stored in the database, said search parameters based on the patient data, and (iii) generating a data report 700, which contains an interpretation of the patient data, the data report accessible to the clinical data collection system. - View Dependent Claims (5)
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- 9. A test kit for performing a molecular genetic assay of a specimen, comprising components for (i) purification of specimen nucleic acid and (ii) denaturing and marking the purified nucleic acid, so that characteristics of target genes can be identified.
- 14. An extractor rack for purification of nucleic acid, comprising a rack body constructed of a material and a face of the rack body comprised of a matrix of adjacent rows and adjacent columns with sized and spaced apertures at each intersection of a row and column.
- 31. A mixing rack for creation of a master mix and for organizing control samples, comprising a rack body constructed of a material and a matrix of sized and spaced apertures in a face of the rack body.
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43. The process of creating a master mix comprising sequentially transferring, according to steps of a protocol, to a master mix container in a mixing rack column an aliquoted amount of a (i) protein buffer, (ii) probe, (iii) oligonucleotide, (iv) first fluorescent marker, (v) second fluorescent marker, and (vi) thermostable endonucleolytic enzyme from each container of the foregoing reagents i through vi, which containers are located in the same column as the master mix container.
- 46. A microtitor for containment of specimen purified nucleic acid, master mix, and specimen controls.
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48. A template guide comprising a material;
- a matrix of rows and columns of apertures, the apertures spaced to correspond to the center-to-center distance between the microtiter wells; and
labeling. - View Dependent Claims (49, 50, 51, 52, 53, 54, 55, 56)
- a matrix of rows and columns of apertures, the apertures spaced to correspond to the center-to-center distance between the microtiter wells; and
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57. A kit box means for packaging, shipping, and storage of components;
- organizing the components; and
using the components to perform genetic tests.
- organizing the components; and
- 58. A kit box comprising compartments enclosed within the box and a cover, so that the kit components are contained in the compartments in an organized manner.
- 64. An assay protocol, comprising steps for operating a genetic test kit to perform genetic tests.
- 80. A form for ordering genetic tests and genetic test kit components comprising questions to be answered by the ordering person, said questions designed to elicit patient demographic data and other information necessary for a licensed physician to determine whether a genetic test is indicated and if so the appropriate test and kit components.
- 83. A tool for calculation of (i) the volumes of reagents used for purification, marking, and denaturing nucleic acids upon entering the number of specimens in a test batch and (ii) reaction times.
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86. A method of purifying nucleic acid, comprising performing a series of steps according to a laboratory assay protocol in conjunction with using an extractor rack.
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87. A method of purifying the nucleic acid of a whole blood specimen, comprising the steps of (a) placing a container of at least one specimen in a first row in a specimen column of an extractor rack, (b) transferring an aliquot amount of the specimen to a first row container in a buffy coat column of the extractor rack, centrifuging the buffy coat container to fractionate the specimen into plasma, buffy coat, and red blood cells, returning the centrifuged container to the first row in the buffy coat column, and transferring an aliquot amount of the buffy coat into a filter basket in a container in the first row in a wash column of the extractor rack, (b) adding wash solution to the center of the filter basket, centrifuging the wash container until a red tinged fluid collects at the bottom of the container, and transferring the filter basket to a container in its respective row in a wash and elution column of the extractor rack, (c) adding a wash solution to the wash and elution container, centrifuging the container, adding elution solution, centrifuging the wash and elution container again, and transferring the filter basket from the wash and elution container to a container in its respective row in an elution and DNA/RNA column of the extractor rack, and (d) adding elution solution, heating the elution and DNA/RNA container, centrifuging the container, returning the container to its respective row in the elution and DNA/RNA column, and discarding the filter basket.
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88. A method of denaturing and marking purified nucleic acid, comprising performing a series of steps according to a laboratory assay protocol in conjunction with using a mixing rack and a microtitor.
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89. A method of denaturing and marking purified nucleic acid for the Factor V Leiden genetic assay, comprising the steps of (a) transferring a mixed, aliquoted amount of each of the unfrozen protein buffer, probe, olgionucleotide, first FRET, second FRET, and cleavage enzyme reagents and each of the wildtype, HET, mutant, and targetless control samples into containers in the respectively labeled aperture in a mixing rack, centrifuging each of the containers, and returning the containers to their respective aperture, (b) transferring an aliquoted amount of each of the reagents, one at a time, to the container in the master mix aperture in the mixing rack, mixing the master mix contents, centrifuging the master mix, and returning the centrifuged master mix container to its respective aperture. (d) transferring an aliquoted amount of wild type control sample to a microtitor well in a first column, HET control sample to a second well in the same column, mutant control sample to a third well in the same column, and targetless control sample to a fourth well in the same column, (e) transferring an aliquoted amount of purified nucleic acid from the elution and DNA column of the extractor rack to four wells in a second column adjacent to the first column in the microtitor, each of the four wells in a row adjacent the wells of the first column, (f) dispensing an aliquoted amount of mineral oil on top of each of the control sample wells and each of the purified nucleic acid wells, (g) heating the microtitor for a first period of time at a first temperature, (h) while heating the microtitor at a second lower temperature, transferring an aliquoted amount of master mix to each of the control samples and each of the purified nucleic acid wells by extending the tip of a pipette containing the master mix below the mineral oil, (i) continuing to heat the microtitor at the second temperature for a second period of time to incubate.
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90. A method of reading the incubated microtitor wells of claim, comprising placing the microtitor in a fluorometer and initiating reading.
Specification