Osteogenesis imperfecta is a clinically and genetically heterogeneous primary skeletal dysplasia characterized by increased bone fragility, low bone mass, and susceptibility to skeletal fractures. The clinical severity is highly variable depending on the genetic variant responsible and the affected gene.
Osteogenesis imperfecta: 1-5 / 10,000 (ORPHA:666).
The benefits derived from a genetic diagnosis in this context can range from family genetic counseling, typical of genetic studies in general, to the prevention of associated comorbidities in patients with a diagnosis of osteogenesis imperfecta, such as the adoption of measures to reduce new fractures both, in daily life, as well as in medical-surgical procedures.
Recommended service when fractures occur in a patient with minimal or no trauma in the absence of other factors that could explain them, such as, for example, non-accidental trauma in the context of child abuse.
1) Download & fill out
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2) Sample collection
See sample types in the guidelines
3) Pack the sample
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4) Send the sample & the request
Please schedule the delivery for Monday–Friday: 8am – 5pm
5) Result: the report
Via: e-mail and/or through the customer portal
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Turnaround time (TAT): 25 days
Ref. S-202110094
Virtual panel based on whole exome sequencing, aimed at analyzing all high-evidence genes related to osteogenesis imperfecta.
Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.
Osteogenesis imperfecta
