Tuberous Sclerosis Complex (often referred to as TSC or TS) is a genetic condition, meaning that it is caused by an alteration (or change) in a gene. Through our online ordering and statement reporting system, Nucleus, ordering providers have access to the details of the analysis, including patient specific sequencing metrics, a gene level coverage plot and a list of regions with suboptimal coverage (<20X for nuclear genes and <1000X for mtDNA) if applicable. Tuberous sclerosis complex (TSC) is one of the most common neurocutaneous disorders, affecting approximately 50,000 children and adults in the US. Therefore, a negative genetic diagnostic test result does not exclude a diagnosis … This information may be helpful for a number of reasons. Sequence and copy number variants classified as pathogenic, likely pathogenic and variants of uncertain significance (VUS) are confirmed using bi-directional Sanger sequencing by orthogonal methods such as qPCR/ddPCR when they do not meet our stringent NGS quality metrics for a true positive call. TSC1 coding exons 1-21 and TSC2 coding exons 1-41 and well into the 5’ and 3’ ends of all the introns and untranslated regions are analyzed by sequencing. Search Advanced search for tests. The diagnostic yield varies depending on the assay used, referring healthcare professional, hospital and country. Our clinical statement includes tables for sequencing and copy number variants that include basic variant information (genomic coordinates, HGVS nomenclature, zygosity, allele frequencies, in silico predictions, OMIM phenotypes and classification of the variant). The Blueprint Genetics Tuberous Sclerosis Panel (test code ON1401): Commonly used ICD-10 code(s) when ordering the Tuberous Sclerosis Panel. Genes are the instructions for the normal growth and maintenance of our bodies. Tuberous sclerosis complex (TSC) is a multisystem genetic disorder caused by mutations in the TSC1 and TSC2 genes. For additional information, please refer to the Test performance section and see our Analytic Validation. If you are a patient or family member of a patient, please contact your provider to place a kit order on your behalf. Genomic deoxyribonucleic acid (gDNA) is isolated from the patient’s specimen using standardized methodology and quantified. Note that we do not accept DNA samples isolated from formalin-fixed paraffin-embedded (FFPE) tissue. It is caused by a mutation in either the TSC1 gene or the TSC2 gene. autosomal recessive (AR), mitochondrial (mi), X-linked (XL), X-linked dominant (XLD) and X-linked recessive (XLR); ClinVar refers to the number Is ideal for patients with a clinical suspicion of tuberous sclerosis complex (TSC). 2010. Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder involving abnormalities of the skin, brain, kidney, heart and lungs. A Tuberous Sclerosis Complex panel can be ordered to screen for this disorder prenatally in at-risk patients. Under optimal circumstances, genetic testing identifies mutations in up to 75-80% of affected individuals. If the test includes the mitochondrial genome the target region gene list contains the mitochondrial genes. Genetics and Tuberous sclerosis. Blueprint Genetics’ Plus Analysis is a combination of both sequencing and deletion/duplication (copy number variant (CNV)) analysis. Study design: Sequential deoxyribonucleic acid (DNA) studies were performed on amniotic fluid cells and chorionic villi from 50 pregnant women at risk for having a child with TSC. Tuberous sclerosis is caused by changes (mutations) in either the TSC1 or TSC2 gene. possible, genetic testing (first degree relatives are parents, offspring and siblings). Read more about genetic testing available for diagnostics of tuberous sclerosis. These tumors can occur in the skin, brain, kidneys, and other organs, in some cases leading to significant health problems. Two-thirds of TSC cases result from sporadic genetic mutations, not inheritance, but their offspring may inherit it from them. J Autism Dev Disord. This test analyzes the TSC1 and TSC2 genes. Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic macules, confetti skin lesions, facial angiofibromas, shagreen patches, fibrous cephalic plaques, … GTR Home > Conditions/Phenotypes > ... Tuberous sclerosis 2. skin fibroblasts) is strongly recommended. HGMD refers to the number of variants with possible disease association in the gene listed in Human Gene Mutation Database (HGMD). Pathogenic variants in these genes are associated with tuberous sclerosis complex ( TSC ). Label the sample tube with your patient's name, date of birth and the date of sample collection. Northrup, H. et al. Clinically significant intronic findings beyond 5 base pairs are always reported. Summary Excerpted from the GeneReview: Tuberous Sclerosis Complex. Genetics. Please note that, in rare cases, mitochondrial genome (mtDNA) variants may not be detectable in blood or saliva in which case DNA extracted from post-mitotic tissue such as skeletal muscle may be a better option. In these cases, family member testing can be used for risk stratification. Assess for neuropsychiatric and neurodevelopmental disorders. Is a 2 gene panel that includes assessment of non-coding variants. 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