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The Helix Laboratory Platform is a qualitative in vitro diagnostic device intended for exome sequencing and detection of single nucleotide variants (SNVs) and small insertions and deletions (indels) in human genomic DNA extracted from saliva samples collected with Oragene® Dx OGD-610. The Helix Laboratory Platform is only intended for use with other devices that are germline assays authorized by FDA for use with this device. The device is performed at the Helix laboratory in San Diego, CA.

The Helix Laboratory Platform (HLP) is a high throughput DNA sequencing platform for targeted sequencing of an individual's whole exome. It is intended for targeted sequencing of an individual's whole exome for use with a genetic test application. Genetic test applications may be third party partner ("Partner") genetic test applications or a Helix genetic test application such as the Helix Genetic Health Risk App (HRA; k192073). The DNA sequence generated by this device is intended as input to clinical germline DNA assays intended for use with this device that have FDA marketing authorization. A brief overview of the commercialized workflow is shown in Figure 1 (refer to the section titled "Test Principle" for more specific information regarding the commercialized workflow.) HLP consists of a HiSeq sequencing instrument, cBot system, library preparation reagents, sequencing reagents, and data analysis software. The Helix Laboratory Platform also interacts with the Helix Laboratory Automation Systems and Content Mapping Systems which serve as repositories for the data and do not perform data analysis. The test detects single nucleotide variants (SNVs) insertions and deletions (indels) up to 20 base pairs (bp) and is limited to making high-confidence variant calls that meet prespecified quality metrics (i.e., the analytical range) within the reportable range. Sequencing is performed at the Helix clinical laboratory in San Diego. CA.

The Helix Genetic Health Risk App (HRA) uses qualitative genotyping to detect clinically relevant variants in genomic DNA isolated from human saliva collected from individuals ≥18 years with Oragene®Dx OGD-610 for the purpose of reporting and interpreting Genetic Health Risks (GHR): The Helix Genetic Health Risk App (HRA) for late-onset Alzheimer's disease is indicated for reporting of the e2/e2, e2/e3, e2/e4 and e4/e4 genotypes in the APOE gene. The report describes if a person's genetic result is associated with an increased or decreased risk of developing late-onset Alzheimer's disease. The e2 and e4 variants included in this report are found and have been studied in many ethnicities. Detailed risk estimates have been studied the most in people of European descent. The Helix Genetic Health Risk App (HRA) is to be used with the Helix Laboratory Platform.

The Helix Genetic Health Risk App is an over-the-counter (direct-to-consumer), DNA testing service that provides information and tools for consumers to learn about and explore their DNA. The Helix Genetic Health Risk App is a currently marketed, non-invasive genetic information service that combines qualitative genotyping data indicate for late-onset Alzheimer's disease for reporting of the e2/e2, e2/e3, e2/e4, e3/e3, e3/e4 and e4/e4 genotypes in the APOE gene with descriptive information derived from peer reviewed, published genetic research studies. It is a home use, over-the-counter (direct-to-consumer) DNA testing service intended to provide information and tools for consumers to learn about and explore their DNA. Customer saliva is selfcollected using the FDA cleared Oragene®·Dx OGD-610 saliva collection kit manufactured by DNA Genotek, Inc. (k192920), which consists of a sealable collection tube containing a stabilizing buffer solution. Once the sample is collected, it is shipped to the CLIA-certified and College of American Pathologists (CAP) -accredited Helix laboratory for testing. DNA is isolated from the saliva and tested using Helix's proprietary whole exome sequencing assay authorized under DEN190035 in the Helix laboratory. The genomic DNA is processed and sequenced using next generation sequencing (NGS) reagents and instrumentation manufactured by Illumina. The sequencing data is analyzed using Helix's proprietary software, where the genetic variants of interest are determined. All samples must pass Helix's stringent quality control metrics prior to analysis. Samples that do not pass quality thresholds will undergo re-sequencing and/or sample re-collection. The genetic variant results are used to generate personalized reports that provide information about the detected genotype for the customer. These reports tell the user which genotype has/have been detected in their sample and provide information on the risk of disease associated with the genotype. If no genotype was determined, that information is also provided. The personalized reports are designed to present scientific concepts to users in an easy-tounderstand format. The reports provide scientifically valid information about the risks associated with the presence of a particular genetic variant. The reports are designed to help users understand the meaning of their results and any appropriate actions that may be taken based on their results.