October 10, 2011 — Connective Tissue Gene Tests (CTGT) today announced testing for six additional disorders, bringing the number of new tests added in 2011 to forty two and the total number of disorders for which testing is offered to more than 150.
The following tests are now offered:
Acromesomelic dysplasia, Maroteaux type (AMDM; MIM 602875) is an autosomal recessive skeletal dysplasia caused by loss of function mutations in the natriuretic peptide receptor B gene (NPR2).
Acromicric dysplasia (ACMICD; MIM 102370) is an autosomal dominant disorder caused by mutations in exons 41 and 42 of the FBN1 gene.
Cranioectodermal dysplasia (CED) is an autosomal recessive ciliopathy characterized by sagittal craniosynostosis, skeletal, facial and ectodermal abnormalities. CED2 is caused by mutations in the gene WDR35.
Ehlers-Danlos syndrome, musculocontractural type (MIM 601776) is an autosomal recessive variant of Ehlers-Danlos syndrome (EDS) caused by mutations in the carbohydrate sulfotransferase 14 gene (CHST14).
Geleophysic dysplasia 2 (GPHYSD2; MIM 614185) is a genetically heterogeneous disorder caused by autosomal dominant mutations in exons 41 and 42 of the FBN1 gene.
Short rib-polydactyly syndrome, type V (SRPS5; MIM 614091) is an autosomal recessive osteochondrodysplasia for which mutations have been described in the WDR35 gene.
More information can be found regarding these new tests on the All Tests page of this web site. 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.