December 14, 2009 — Connective Tissue Gene Tests (CTGT) is pleased to announce the availability of molecular diagnostics for two additional inherited connective tissue disorders: Rickets, hypophosphatemic, autosomal recessive (ARHP) and Omodysplasia 1 (OMOD1).
Rickets, hypophosphatemic, autosomal recessive (ARHP) is a vitamin D resistant infantile rickets characterized by increased bone density, early fusion of cranial sutures, deafness, renal phosphate wasting and elevated plasma FGF23. It is caused by mutations in dentin matrix acidic phosphoprotein 1 (DMP1).
Omodysplasia 1 (OMOD1) is a congential, autosomal recessive rhizomelic dysplasia characterized by proximal shortening and distal tapering of the humeri and femora and, in some individuals, a number of other possible skeletal findings. Autosomal recessive omodysplasia is caused by loss of function mutations in the glypican 6 gene (GPC6).
More information can be found regarding both tests 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 download the latest requisition forms from the Requisition Form page on CTGT web site regularly.