Seagate backup plus 5tb portable hard drive11/30/2023 Through our online ordering and statement reporting system, Nucleus, ordering providers have access to the details of the analysis, including patient specific sequencing metrics, a gene level coverage plot and a list of regions with suboptimal coverage (<20X for nuclear genes and <1000X for mtDNA) if applicable. For missense variants, in silico variant prediction tools such as SIFT, PolyPhen, MutationTaster are used to assist with variant classification. We have incorporated a number of reference population databases and mutation databases including, but not limited, to 1000 Genomes Project, gnomAD, ClinVar and HGMD into our clinical interpretation software to make the process effective and efficient. Our pipeline is streamlined to maximize sensitivity without sacrificing specificity. Incorporation of rigorous quality control steps throughout the workflow of the pipeline ensures the consistency, validity and accuracy of results. The sequencing data generated in our laboratory is analyzed with our proprietary data analysis and annotation pipeline, integrating state-of-the art algorithms and industry-standard software solutions. If the test includes the mitochondrial genome the target region gene list contains the mitochondrial genes. Some regions of the gene(s) may be removed from the panel if specifically mentioned in the ‘Test limitations” section above. In addition, the panel includes non-coding and regulatory variants if listed above (Non-coding variants covered by the panel). The target region for each gene includes coding exons and ☒0 base pairs from the exon-intron boundary. Rho zero cell line (=no mtDNA), mean sequencing depth Heteroplasmic (1000x MQ0 sequencing coverage (%) (clinical) The performance metrics of our laboratory in Marlborough, MA, are equivalent. The performance metrics listed below are from an initial validation performed at our main laboratory in Finland. Blueprint Genetics’ Plus Analysis is a combination of both sequencing and deletion/duplication (copy number variant (CNV)) analysis. Plus analysis increases the likelihood of finding a genetic diagnosis for your patient, as large deletions and duplications cannot be detected using sequence analysis alone. The diagnostic yield varies depending on the assay used, referring healthcare professional, hospital and country. These sample types were selected in order to maximize the likelihood for high-quality DNA yield. Please see our sequencing and detection performance table for details regarding our ability to detect different types of alterations (Table).Īssays have been validated for various sample types including EDTA-blood, isolated DNA (excluding from formalin fixed paraffin embedded tissue), saliva and dry blood spots (filter cards). Our panels are sectioned from our high-quality, clinical grade NGS assay. The genes on the panel have been carefully selected based on scientific literature, mutation databases and our experience. The sensitivity of this test may be reduced if DNA is extracted by a laboratory other than Blueprint Genetics.įor additional information, please refer to the Test performance section. Some disease causing variants present in mtDNA are not detectable from blood, thus post-mitotic tissue such as skeletal muscle may be required for establishing molecular diagnosis.Variants within pseudogene regions/duplicated segments.Low level heteroplasmy in mtDNA (>90% are detected at 5% level).Low level mosaicism in nuclear genes (variant with a minor allele fraction of 14.6% is detected with 90% probability).This test may not reliably detect the following:
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