![]() 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. 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.Hereditary spherocytosis is the most common congenital hemolytic anemia among Caucasians with an estimated prevalence ranging from 1:2,000 to 1:5,000. ![]() Hereditary spherocytosis and hereditary elliptocytosis are examples of inherited hemolytic anemias. The thalassemias are among the most common genetic disorders worldwide, occurring more frequently in the Mediterranean region, the Indian subcontinent, Southeast Asia, and West Africa. The thalassemias, sickle cell disease, and other hemoglobinopathies represent a major group of inherited disorders of hemoglobin synthesis ( HBA1, HBA2, HBB). It is characterized by hydrops fetalis leading to death almost always in utero or shortly after birth. Hb Bart syndrome is a severe form of anemia secondary to alpha thalassemia. Hereditary anemia may be clinically highly variable, including mild, moderate, or severe forms. The causes of anemia may be classified as impaired red blood cell (RBC) production or increased RBC destruction (hemolytic anemias). Other more serious symptoms may occur depending on the underlying cause. The symptoms of anemia include fatigue, weakness, pale skin, and shortness of breath. This test does not detect reliably these inversions.Īnemia is defined as a decrease in the amount of red blood cells or hemoglobin in the blood. ![]() Is not recommended for patients with a suspicion of severe Hemophilia A if the common inversions are not excluded by previous testing. ![]() These genes are highly homologous reducing mutation detection rate due to challenges in variant call and difficult to detect mutation profile (deletions and gene-fusions within the homologous genes tandem in the human genome). Is not recommended for patients suspected to have anemia due to alpha-thalassemia ( HBA1 or HBA2). The genes on this panel are included in the Comprehensive Hematology Panel. Is ideal for patients suspected to have hereditary anemia who have had HBA1 and HBA2 variants excluded as the cause of their anemia or patients suspected to have hereditary anemia who are not suspected to have HBA1 or HBA2 variants as the cause of their anemia. ![]()
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