![]() 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.Retinitis pigmentosa 39, Usher syndrome, type 2A Phosphoribosylpyrophosphate synthetase I superactivity, Arts syndrome, Charcot-Marie-Tooth disease, X-linked recessive, 5, Deafness, X-linked 1 Heimler syndrome, Peroxisome biogenesis disorder 4A, Peroxisome biogenesis disorder 4B Heimler syndrome, Peroxisome biogenesis factor disorder 1A, Peroxisome biogenesis factor disorder 1B Usher syndrome, type 2D, Deafness, autosomal recessive 31ĭeafness, Deafness, autosomal recessive 36Ĭharcot-Marie-Tooth disease, axonal, type 2W, Usher syndrome, type 3Bĭeafness, autosomal dominant 11, Usher syndrome, type I, Deafness, autosomal recessive 2 Retinitis pigmentosa, Usher sydnrome, type 3A Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract USH3 accounts less than 3% of cases, but is more frequent in the Finnish and Ashkenazi Jewish populations. ![]() Vestibular disorders are present in half of the cases. In type 3 (USH3), hearing loss and vision loss due to RP develop in adolescence or early adulthood and both are progressive. Biallelic mutations in USH2A account for the majority of the cases (~80%). It is associated with moderate to severe hearing loss, absence of vestibular dysfunction, and later onset of retinal degeneration. Usher syndrome type 2 (USH2) is the most common form of the Usher syndromes (60% of cases). Mutations in MYO7A are the most common causes for patents with USH type 1 globally. Type 1 (USH1) accounts for almost 40% of cases and is the most severe form, characterized by severe to profound congenital deafness, vestibular areflexia, and prepubertal onset of progressive RP. Three clinical entities have been defined. It is clinically and genetically heterogeneous and is the most common cause of hereditary combined deafness-blindness. Usher syndrome (USH) is an autosomal recessive disease characterized by hearing loss, retinitis pigmentosa (RP), and in some cases vestibular dysfunction.
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