And I've never been married or had kids so I didn't feel the need to get genetic testing to see what type of TSC I have. Tuberous sclerosis complex (TSC) is one of the most common neurocutaneous disorders, affecting approximately 50,000 children and adults in the US. Identification of a heterozygous pathogenic variant in TSC1 or TSC2 by molecular genetic testing. At Blueprint Genetics, our PhD molecular geneticists, medical geneticists and clinical consultants prepare the clinical statement together by evaluating the identified variants in the context of the phenotypic information provided in the requisition form. Significant variability in the degree of expression is a major feature of this condition, even within the same family. Workup in tuberous sclerosis complex. The diagnostic yield varies depending on the assay used, referring healthcare professional, hospital and country. Search Advanced search for tests. Tuberous sclerosis 1. Two-thirds of TSC cases result from sporadic genetic mutations, not inheritance, but their offspring may inherit it from them. Is ideal for patients with a clinical suspicion of tuberous sclerosis complex (TSC). Assess for neuropsychiatric and neurodevelopmental disorders. Gross deletion/duplication analysis determines gene copy number for all coding exons. 2 μg in TE buffer or equivalent, CLIA-certified personnel performing clinical testing in a CLIA-certified laboratory, Powerful sequencing technologies, advanced target enrichment methods and precision bioinformatics pipelines ensure superior analytical performance, Careful construction of clinically effective and scientifically justified gene panels, Some of the panels include the whole mitochondrial genome (please see the Panel Content section), Our Nucleus online portal providing transparent and easy access to quality and performance data at the patient level, Our publicly available analytic validation demonstrating complete details of test performance, ~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 rigorous variant classification scheme, Our systematic clinical interpretation workflow using proprietary software enabling accurate and traceable processing of NGS data, Some of the panels include the whole mitochondrial genome but not all (please see the Panel Content section), Repeat expansion disorders unless specifically mentioned. Any copy number changes detected by NGS are confirmed by targeted chromosomal microarray and/or multiplex ligation-dependent probe amplification (MLPA). Tuberous Sclerosis Complex (TSC) is caused by pathogenic variants in the TSC1 and TSC2 genes. In addition, the statement includes detailed descriptions of the variant, gene and phenotype(s) including the role of the specific gene in human disease, the mutation profile, information about the gene’s variation in population cohorts and detailed information about related phenotypes. We also provide links to the references, abstracts and variant databases used to help ordering providers further evaluate the reported findings if desired. 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. Our pipeline is streamlined to maximize sensitivity without sacrificing specificity. Our panels are sectioned from our high-quality, clinical grade NGS assay. The final step in the analysis is orthogonal confirmation. Common clinical indications of TSC include, but are not limited to: Please see our sequencing and detection performance table for details regarding our ability to detect different types of alterations (Table). Objective: The objective of the study was to report experience with prenatal molecular diagnosis of tuberous sclerosis complex (TSC). Read more about genetic testing available for diagnostics of tuberous sclerosis. Tuberous sclerosis complex also causes developmental problems, and the signs and symptoms of the condition vary … The list of associated, gene specific phenotypes are generated from CGD A Tuberous Sclerosis Complex panel can be ordered to screen for this disorder prenatally in at-risk patients. Heterozygous pathogenic variants can be identified in 75%-90% of individuals who meet the clinical diagnostic criteria for TSC (Northrup H. et al, 2013: Ped. In this situation, neither parent has the disorder or the faulty gene(s). It is caused by a mutation in either the TSC1 gene or the TSC2 gene. This panel is designed to detect heritable germline mutations and should not be used for the detection of somatic mutations in tumor tissue. here. Instead, a faulty gene first occurs in the affected individual. Tuberous sclerosis complex also causes developmental problems, and the signs and symptoms of the condition vary … The conclusion summarizes all of the existing information and provides our rationale for the classification of the variant. These tumors can occur in the skin, brain, kidneys, and other organs, in some cases leading to significant health problems. The presentation of TSC varies between affected individuals and prediction of cancer development is challenging. 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