Incorporation of rigorous quality control steps throughout the workflow of the pipeline ensures the consistency, validity and accuracy of results. The target region for each gene includes coding exons and ±20 base pairs from the exon-intron boundary. Marfan syndrome is one of the most common inherited disorders of connective tissue. 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. 2012 Jul 3;126(1):142-57. Genetic testing of the FBN1 gene identifies 70 - 93 percent of the mutations and is available in clinical laboratories. Extracted DNA, min. The technology may have limited sensitivity to detect variants in genes marked with these symbols (please see the Panel content table above). Is ideal for patients with a clinical suspicion of Marfan syndrome or a related disorder. Genetics and cardiovascular disease: a policy statement from the American Heart Association. Medication, such as beta blockers, is used to decrease the stress on the aorta at the time of diagnosis or when there is progressive aortic dilatation. While Marfan syndrome is not always inherited, it is always heritable. We could not determine an out-of-pocket estimate. nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. If Marfan Syndrome is suspected, doctors will perform heart tests such as an echocardiogram, a CT scan or an MRI. In addition, Scoliosis shortens the trunk also contributes to the arms and legs appearing too long. Any variants that fall Unless explicitly guaranteed, sequence changes in the promoter, non-coding exons, Marfan syndrome an inherited disorder of connective tissue occurring once in every 10,000 to 20,000 individuals. 2001 Apr 18. These include bone overgrowth and loose joints (joint laxity). Romaniello F. et al., Aortopathy in Marfan syndrome: an update. Cardiovasc Pathol. We also provide links to the references, abstracts and variant databases used to help ordering providers further evaluate the reported findings if desired. When a child with Marfan syndrome is born to parents who do not show features of the Marfan syndrome, it is likely the child has a new mutation. The amount shown above is an estimate of your out-of-pocket cost based upon the The genes on the panel have been carefully selected based on scientific literature, mutation databases and our experience. 2013 Oct;132(4):e1059-72. Penetrance is high for individuals with a pathogenic variant in FBN1. These sample types were selected in order to maximize the likelihood for high-quality DNA yield. Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments 3mL whole blood in a purple-top EDTA tube (K2EDTA or K3EDTA), Saliva, assisted saliva, buccal swab and gDNA, New York Approved: Gene is considered to have suboptimal coverage when >90% of the gene’s target nucleotides are not covered at >20x with mapping quality score (MQ>20) reads. Approximately 25 percent of individuals who have Marfan syndrome, have the condition as a result of a new (de novo) mutation. The diagnosis of Marfan syndrome is a clinical diagnosis that is based on family history and the presence of characteristic clinical findings in ocular, skeletal and cardiovascular systems. If a mutation known to cause Marfan syndrome is identified, the diagnosis requires one major criterion and involvement of a second organ system. Curvature of the spine (scoliosis) is another common skeletal symptom that can be mild or severe and progressively worsen with age. Marfan syndrome is inherited in families in an autosomal dominant manner. YES. However patients negative for the test for gene mutation should be considered for evaluation for other conditions that have similar features of Marfan syndrome such as Dietz syndrome, Ehlers Danlos syndrome, and homocystinura. Can J Cardiol. Aortic aneurysm, ruptured, thoracic aorta, Aortic aneurysm, ruptured, abdominal aorta, Aortic aneurysm, ruptured, unspecific site, Congenital heart defects and skeletal malformations syndrome (CHDSKM), Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, Spondyloepimetaphyseal dysplasia, X-linked, Meester-Loeys syndrome, Homocystinuria due to cystathionine beta-synthase deficiency, Marshall syndrome, Fibrochondrogenesis, Stickler syndrome type 2, Weissenbacher-Zweymuller syndrome, Deafness, Otospondylomegaepiphyseal dysplasia, Fibrochondrogenesis, Stickler syndrome type 3 (non-ocular), Ehlers-Danlos syndrome, Caffey disease, Osteogenesis imperfecta type 1, Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4, Ehlers-Danlos syndrome, cardiac valvular form, Osteogenesis imperfecta type 1, Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4, Avascular necrosis of femoral head, Rhegmatogenous retinal detachment, Epiphyseal dysplasia, with myopia and deafness, Czech dysplasia, Achondrogenesis type 2, Platyspondylic dysplasia Torrance type, Hypochondrogenesis, Spondyloepiphyseal dysplasia congenital (SEDC), Spondyloepimetaphyseal dysplasia (SEMD) Strudwick type, Kniest dysplasia, Spondyloperipheral dysplasia, Mild SED with premature onset arthrosis, SED with metatarsal shortening, Stickler syndrome type 1, Mental retardation, with Marfanoid habitus, Autism, MASS syndrome, Marfan syndrome, Acromicric dysplasia, Geleophysic dysplasia 3, Congenital contractural arachnodactyly (Beals syndrome), Ohdo syndrome, Mental retardation, with Marfanoid habitus, FG syndrome, Opitz-Kaveggia syndrome, Lujan-Fryns syndrome, Aneurysms-osteoarthritis syndrome, Loeys-Dietz syndrome, Loeys-Dietz syndrome (Reinhoff syndrome), Arrhythmogenic right ventricular dysplasia, Insertions, deletions and indels by sequence analysis, Copy number variants (exon level dels/dups), Microdeletion/-duplication sdrs (large CNVs, n=37)), The performance presented above reached by Blueprint Genetics high-quality, clinical grade NGS sequencing assay with the following coverage metrics, Nucleotides with >20x sequencing coverage (%), Insertions and deletions by sequence analysis n=40 indels, Insertions, and deletions 1-24 bps by sequence analysis; n=17, Copy number variants (separate artifical mutations; n=1500), The performance presented above reached by following coverage metrics at assay level (n=66), Nucleotides with >1000x MQ0 sequencing coverage (%) (clinical), rho zero cell line (=no mtDNA), mean sequencing depth.
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