10/7/2023 0 Comments Blueprint dna test![]() 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.Thiopurine S-methyltransferase deficiencyįamilial juvenile hyperuricemic nephropathy, Glomerulocystic kidney disease with hyperuricemia and isosthenuria, Medullary cystic kidney disease 2 Hyperuricemic nephropathy, Hyperproreninemia, familial, Renal tubular dysgenesis Phosphoribosylpyrophosphate synthetase I superactivity, Arts syndrome, Charcot-Marie-Tooth disease, X-linked recessive, 5, Deafness, X-linked 1 Purine nucleoside phosphorylase deficiency Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to Lesch-Nyhan syndrome, Kelley-Seegmiller syndrome ![]() Hyperekplexia, Molybdenum cofactor deficiency Postaxial acrofacial dysostosis (Miller syndrome)ĥ-fluorouracil toxicity, Developmental delay with or without dysmorphic facies and autism Severe combined immunodeficiency due to adenosine deaminase deficiencyĪdenine phosphoribosyltransferase deficiencyĪICAR transformylase/IMP cyclohydrolase deficiency
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