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Multiple Exostoses, hereditary (HME)
EXT1
EXT2
Hereditary multiple exostoses is an autosomal dominant disorder characterized by the development of benign cartilage-capped tumors (exostoses) at the ends of the long bones or the surface of flat bones. Other associated features are bony deformity, bowing of the long bones, limited range of motion, and premature osteoarthrosis. A rare but serious aspect is the development of malignant chondrosarcoma, which occurs in 1-5% of patients.
There is genetic heterogeneity in HME. GeneDx offers analysis of the two major genes, EXT1 and EXT2, mutations in which cause HME in approximately 75% of individuals with HME. Sixty to eighty percent of identified mutations in HME are found in the EXT1 gene, whereas 20-40% are in the EXT2 gene.
Using genomic DNA obtained from blood (1-5ml in EDTA), the coding exons of EXT1 are sequenced first. Concurrently, targeted array CGH analysis with exon-level resolution (ExonArrayDx) is performed to evaluate for a deletion or duplication of one or more exons in either EXT1 or EXT2. If negative, sequence analysis of the coding regions of EXT2 is performed.
Information Sheet, including prices and CPT codes
Consent Document
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options
HME, Osteochondromatosis; osteochondroma; cartilaginous; exostoses; exostosis; exostosin; diaphyseal aclasis; bone; bowing; osteoarthrosis; malignant; tumor; chondrosarcoma, EXT1, EXT2
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