April 2, 2010 — Connective Tissue Gene Tests (CTGT) is pleased to announce the availability of molecular diagnostics for five additional inherited connective tissue disorders.
Aortic aneurysm, familial thoracic 3 / 4 / 5 / 6 (AAT3 / AAT4 / AAT5 / AAT6) is a sequencing test panel for the TGFBR2, MYH11, TGFBR1 and ACTA2 genes. Additional information regarding each individual disorder is available on the CTGT web site.
Capillary malformation arteriovenous malformation (CMAVM) is an autosomal dominant disorder characterized by multiple capillary malformations or port-wine stains, in addition to fast-flow vascular lesions. It is caused by mutations in the RASA1 gene.
Multiple epiphyseal dysplasia (MED) is a clinically and genetically heterogeneous chondrodysplasia with either autosomal dominant or recessive inheritance. Previously, a six gene panel was available for MED analysis. We now offer the option of selecting only the COMP gene analysis. Mutations in COMP are responsible for the majority of autosomal dominant MED.
Parkes Weber syndrome (PKWS) is an autosomal dominant disorder characterized by a large vascular stain with multiple underlying micro-arteriovenous fistulas in association with soft tissue and skeletal hypertrophy of the affected limb. Some, but not all, cases of Parkes Weber syndrome are caused by mutations in the RASA1 gene.
Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development with an estimated incidence of 1:50,000 live births. The most common findings include downward-slanting palpebral fissures and hypoplasia of the zygomatic complex and mandible. Treacher Collins syndrome, also known as Franceshetti-Klein syndrome, is mainly caused by loss of function mutations in the TCOF1 gene.
More information can be found regarding the new tests on CTGT's web site www.ctgt.net. As new tests are added frequently, CTGT advise clients to regularly download the latest requisition forms from the Requisition Forms page on the CTGT web site.