December 22, 2009 — Connective Tissue Gene Tests (CTGT) continues to increase its repertoire of diagnostic tests, today announcing that it has added a new test for Camurati-Engelmann disease (CED).
Camurati-Engelmann disease is caused by mutations in the transforming growth factor β1 gene (TGFB1). TGFB1 affects osteoblasts and osteoclasts and acts as a coupling factor between bone deposition and resorption.
Camurati-Engelmann disease (CED; MIM 131300) is an autosomal dominant disorder characterized by a waddling gait, leg pain, easy fatigability and reduced muscle mass. It is a progressive, sclerosing bone dysplasia displaying endosteal and periosteal thickening of the diaphyses of the long bones resulting in cortical thickening and narrowing of the medullary cavity. Additional findings can include exophtalmos, vision and hearing loss, facial paralysis, anemia, leukopenia, hepatosplenomegaly and sclerosis of the skull base. Onset usually occurs in childhood and there is variable penetrance. Patients may be misdiagnosed with muscular dystrophy.
More information can be found regarding the new test on CTGT's web site www.ctgt.net, and may be ordered using the updated order forms found on the site.
As new tests are added frequently, CTGT advise clients to regularly download the latest requisition forms from the Requisition Form page on the CTGT web site.