![]() 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.Osteoprosis, autosomal dominant, Osteogenesis imperfecta, type XV Keratoconus, Osteogenesis imperfecta, type XVII Hypophosphatemic rickets with hypercalciuria Histiocytosis-lymphadenopathy plus syndrome, Dysosteosclerosis Osteoporosis and osteoporotic fractures, Skeletal dysplasia and disorders Keratosis follicularis spinulosa decalvans, IFAP syndrome, Palmoplantar keratoderma, mutilating, with periorificial keratotic plaquesīruck syndrome, Osteogenesis imperfecta type 3 Van Buchem disease, Osteoporosis-pseudoglioma syndrome, Hyperostosis, endosteal, Osteosclerosis, Exudative vitreoretinopathy, Osteopetrosis late-onset form type 1, LRP5 primary osteoporosis Tumoral calcinosis, hyperphosphatemic, Hypophosphatemic ricketsīruck syndrome 1, Osteogenesis imperfecta, type XI Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4 Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, Hypophosphatemic rickets, Nephrolithiasis, I, Dent diseaseĮhlers-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 4 Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects ![]() Rhizomelic short stature with microcephaly, micrognathia, and developmental delay (SRMMD) Odontohypophosphatasia, Hypophosphatasia perinatal lethal, infantile, juvenile and adult forms We have also included genes for some syndromes/disorders where osteopenia/fractures is one of the findings for differential diagnostic purposes for cases with limited clinical information, such as newborns. ![]() We have included genes for hypophosphatasia on this panel for differential diagnostic purposes. ![]() The differential diagnosis includes child abuse, rickets, osteomalacia, and other rare skeletal syndromes. Other extraskeletal manifestations may include hearing loss, dentinogenesis imperfecta, blue/gray sclerae, hypercalciuria, easy bruisability, increased laxity of the ligaments and skin and cardiovascular abnormalities. Skeletal deformity, short stature, scoliosis and wormian bones may be present. The major clinical manifestation is skeletal fragility. Disease prevalence is approximately 6-7:100,000. Gonadal mosaicism may be present in 3%-5% of cases. The proportion of cases caused by a de novo COL1A1 or COL1A2 mutation varies by the severity of disease: approximately 60% of cases of classic non-deforming OI with blue sclerae or common variable OI with normal sclerae, virtually 100% of perinatally lethal OI, and close to 100% of progressively deforming OI are de novo. The primary differential diagnosis for individuals with features of COL1A1/2-related OI are autosomal recessive subtypes of OI. Several additional genes have recently been identified. COL1A1/2-related OI is inherited in an autosomal dominant manner. About 90% of patients have mutations in type I collagen genes ( COL1A1 and COL1A2). The two mildest forms, classic non-deforming OI and common variable OI, account for considerably more than half of all OI. Osteogenesis imperfecta (OI) phenotype is variable, ranging from osteoporosis presenting in adulthood to lethality in infancy. ![]()
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