Test Information: The Global Screening Panel is intended to evaluate individuals for a broad spectrum of clinically significant known genetic variants and biomarkers with disease or pharmacogenomic associations. It is not intended as a diagnostic test.
Methodology: This test is a qualitative, array based genotyping assay used to interrogate the genotypes across a broad spectrum of clinically significant variants (listed below). Nucleic acid from the submitted specimen was processed in accordance with the Infinium HTS Assay Protocol Guide (Illumina, San Diego, CA). Specifically, between 10 and 200 ng of genomic DNA was processed and subsequently hybridized to the Infinium Global Screening Array-24 v1.0 array chip. Array chips were scanned on an Illumina iScan and data was processed in GenomeStudio V2.0. Array quality control and genotype calls were reviewed.
The test was developed, and its performance characteristics were determined by Genosity. The report and methods used to generate the report, have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. This test is used for both clinical and clinical research purposes. Pursuant to the requirements of federal regulations listed in the Clinical Laboratory Improvement Amendments of 1988 (CLIA), this laboratory has established and verified this test's accuracy and precision. However, the possibility of a false positive or false negative result incurred during any phase of the testing cannot be completely excluded.
Limitations: This assay is a screening test designed to identify a specific subset of known variants that have medical relevance. It only detects the variants listed below and does not detect all genetic variants that are clinically significant. Therefore, a negative test result does not mean that an individual does not have any medically relevant genetic variants. A negative result does not guarantee current or future health of an individual. Variant detection rates and test sensitivity are dependent on an individual's ethnic background as many of the targeted variants are more common among individuals of certain ethnicities. In addition, as with any hybridization-based assay, variants in oligo binding regions can impact binding and, therefore results.
Although rare, the accuracy of results may also be impacted due to sample mix-up, DNA contamination, or poor DNA quality, as well as in the setting of bone marrow transplantation or a recent blood transfusion.
Laboratory Information: Laboratory Information: Genosity is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory (CAP#: 8289311; CLIA #31D2142534). This test was performed at Genosity located at 485F US Route 1 South, Suite 110, Iselin, NJ 08830.