11/25/2023 0 Comments Blueprint genetic testingIncorporation 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: Non-coding variants deeper than ☒0 base pairs from exon-intron boundary unless otherwise indicated (please see above Panel Content / non-coding variants covered by the panel).Repeat expansion disorders unless specifically mentioned.Some of the panels include the whole mitochondrial genome but not all (please see the Panel Content section).Our systematic clinical interpretation workflow using proprietary software enabling accurate and traceable processing of NGS data.Our rigorous variant classification scheme.~2,000 non-coding disease causing variants in our clinical grade NGS assay for panels (please see ‘Non-coding disease causing variants covered by this panel’ in the Panel Content section).Our Nucleus online portal providing transparent and easy access to quality and performance data at the patient level.Some of the panels include the whole mitochondrial genome (please see the Panel Content section).Careful construction of clinically effective and scientifically justified gene panels.Powerful sequencing technologies, advanced target enrichment methods and precision bioinformatics pipelines ensure superior analytical performance.CLIA-certified personnel performing clinical testing in a CLIA-certified laboratory.Ventricular tachycardia, catecholaminergic polymorphic Ventricular tachycardia, catecholaminergic polymorphic, 3 Ventricular tachycardia, catecholaminergic polymorphic, Arrhythmogenic right ventricular dysplasia Heart-hand syndrome, Slovenian, Limb-girdle muscular dystrophy, Muscular dystrophy, congenital, LMNA-related, Lipodystrophy (Dunnigan), Emery-Dreiffus muscular dystrophy, Malouf syndrome, Dilated cardiomyopathy (DCM), Mandibuloacral dysplasia type A, Progeria Hutchinson-Gilford type Short QT syndrome, Andersen syndrome, Long QT syndrome, Atrial fibrillation Ventricular tachycardia, catecholaminergic, polymorphic Ventricular tachycardia, catecholaminergic polymorphic, Recurrent cardiac arrest, infantile, Long QT syndromeĬatecholaminergic polymorphic ventricular tachycardia
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