![]() 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.Loeys-Dietz syndrome (Reinhoff syndrome), Arrhythmogenic right ventricular dysplasia Ohdo syndrome, Mental retardation, with Marfanoid habitus, FG syndrome, Opitz-Kaveggia syndrome, Lujan-Fryns syndromeĪneurysms-osteoarthritis syndrome, Loeys-Dietz syndrome MASS syndrome, Marfan syndrome, Acromicric dysplasia, Geleophysic dysplasia 3Ĭongenital contractural arachnodactyly (Beals syndrome)īirt-Hogg-Dube syndrome, Pneumothorax, primary spontaneous Mental retardation, with Marfanoid habitus, Autism Weissenbacher-Zweymuller syndrome, Deafness, Otospondylomegaepiphyseal dysplasia, Fibrochondrogenesis, Stickler syndrome type 3 (non-ocular)Įhlers-Danlos syndrome, Caffey disease, Osteogenesis imperfecta type 1, Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4Įhlers-Danlos syndrome, cardiac valvular form, Osteogenesis imperfecta type 1, Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4Īvascular 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 Marshall syndrome, Fibrochondrogenesis, Stickler syndrome type 2 Homocystinuria due to cystathionine beta-synthase deficiency Spondyloepimetaphyseal dysplasia, X-linked, Meester-Loeys syndrome Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects Depending on the age of diagnosis and severity of symptoms, Marfan syndrome can be fatal early in life however, the majority of affected individuals survive into mid- to late adulthood.Ĭongenital heart defects and skeletal malformations syndrome (CHDSKM) The features of Marfan syndrome can become apparent anytime between infancy and adulthood. Other common features include crowded teeth, a long and narrow face, dural ectasia, an abnormal curvature of the spine, and chest abnormalities. Individuals with Marfan syndrome are usually tall and slender, have elongated fingers and toes, and have an arm span that exceeds their body height. Mitral valve regurgitation is another cardiovascular issue associated with disorder. Aortic aneurysm and dissection can be life threatening. The two major features of Marfan syndrome are vision problems caused by a dislocated lens (ectopia lentis) in one or both eyes and arterial aneurysms and dissection involving especially aorta. The Marfan Syndrome Panel is designed as a genetic diagnostic tool for patients with clinical features of Marfan syndrome. There is also considerable overlap with other connective-tissue disorders such as Loeys-Dietz syndrome (LDS), Ehlers-Danlos syndromes, arterial tortuosity syndrome, Shprintzen-Goldberg syndrome and congenital contractural arachnodactyly (CCA). The diagnosis of Marfan syndrome can be difficult as many of the features are also identified in normal population, features may appear in an age-dependent manner and there is substantial phenotypic variability between patients.
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