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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 sequence analysis of the two major genes, EXT1 and EXT2, whose mutations 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. Sequence analysis of the EXT1 and EXT2 genes are offered as separate tests. Using genomic DNA obtained from buccal (cheek) swabs or blood (1-5cc in EDTA), testing of EXT1 proceeds by bi-directional sequence analysis of all 11 coding exons. The EXT2 gene consists of 15 exons, and all coding exons (2-15) are sequenced in our analysis.
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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