Hereditary multiple osteochondromas or exostoses is an autosomal dominant disorder characterized by multiple bone projections covered by cartilage (osteochondromas) in the metaphyses of long bones, and they can also occur in the diaphyses of long bones. The flat bones, vertebrae, and ribs may also be affected, but the skull is not usually involved. Deformity of the legs, forearms, and hands is usual.
Multiple exostoses: the incidence is 1 / 50,000 newborns (ORPHA:321)
The benefits derived from a genetic diagnosis are aimed at closing the diagnosis and family genetic counseling.
Service is indicated in the presence of a personal history of multiple osteochondromas arising in proximity to the growth physis of long bones or from the surface of flat bones.
Multiple exostoses have a known genetic cause in 87-90% of cases. The responsible variants are single nucleotide variants (SNV) in approximately 90% of patients, with 10% being copy number variants (CNV). The exome allows the identification of both SNVs and CNVs, although there are limitations to the technique for identifying deep intronic variants. The diagnostic performance of this service for this pathology is greater than 85%.
1) Download & fill out
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2) Sample collection
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3) Pack the sample
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4) Send the sample & the request
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5) Result: the report
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Turnaround time (TAT): 25 days
Ref. S-202314149
Virtual panel based on whole exome sequencing, aimed at the analysis of all high-evidence genes related to multiple exostoses, as well as the PTPN11 gene associated with metachondromatosis, an entity in the differential diagnosis.
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.
