Hereditary multiple osteochondromas (HMO), also known as hereditary multiple exostoses (HME) are benign cartilage-capped bone tumors that grow outward from the metaphyses of long bones. HMO can lead to the shortening and bowing of bones; affected individuals often have a short stature. Depending on their location the exostoses can cause the following problems: pain or numbness from nerve compression, vascular compromise, inequality of limb length, irritation of tendon and muscle, as well as a limited range of motion at the joints upon which they encroach, and premature osteoarthrosis. The lifetime risk for malignant osteochondrosarcoma is low (1-5%), but the risk increases with age.
HMO is an autosomal dominant hereditary disorder; meaning a patient with HMO has a 50% chance of transmitting this disorder to his or her children. Most individuals with HMO have a parent who also has the condition, however, approximately 10% -20% of individuals with HMO have the condition as a result of a spontaneous mutation and are thus the first person in their family to be affected.
We provide testing for Multiple Exostoses Type 1 and Type 2.
Exostoses, multiple, type 1
Mutations of EXT1 are the most common cause of HMO. About 200 mutations in the EXT1 gene have been identified in people with hereditary multiple exostoses type 1. These mutations prevent any functional exostosin-1 protein from being made. The loss of exostosin-1 protein function prevents it from forming a complex with the exostosin-2 protein and adding heparan sulfate to proteins.
Exostoses, multiple, type 2
|Exostosis-2 binds to Exostosis-1 to form a complex that modifies a protein called heparan sulfate so it can be used in the body. Heparan sulfate is involved in regulating a variety of body processes including the formation of blood vessels and blood clotting. It also has a role in the spreading of cancer cells. More than 90 mutations in the EXT2 gene have been identified in people with hereditary multiple exostoses type 2. Most of these mutations prevent any functional exostosin-2 protein from being made.
Purpose: Confirm a genetic basis for cancer/Identify at-risk family members
Methodology: Next-Generation Sequencing
Test Requisition: Sequencing Requisition
Specimen Requirements: 2-5 mL Blood-Lavender Top Tube
Panel CPT Codes: 81479x2 Cost: $1500.00
Turn-around-time: 6 weeks
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