![]() 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.
0 Comments
Leave a Reply. |
AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |