The Collagen Diagnostic Laboratory (CDL) is housed in the Department of Pathologyat the University of Washington, Seattle, WA. The CDL offers diagnostic testing for osteogenesis imperfecta (OI), several forms of Ehlers-Danlos syndrome (EDS), and select other connective tissue disorders. We also provide consultation for clinicians and families with questions on these rare disorders, review x-rays and clinical history, and offer research testing and enrollment in research studies.
Clinical testing for two new OI genes, WNT1 and TMEM38B, as well as an expanded Recessive OI Panel that includes these genes (12 genes total), is now available at the CDL. Mutations in WNT1 and TMEM38B result in moderately severe and progressive osteogenesis imperfecta inherited as an autosomal recessive disorder (see Individual OI Genes for more information). Mutations in WNT1 have also been associated with early onset osteoporosis.
Please see our new Osteogenesis Imperfecta Test Guide! This latest version is expanded to address new laboratory developments in the diagnosis of OI, including testing for OI type V, the role of deletion/duplication analysis, and much more.
An “EDS type IV Passport” is available for recently diagnosed individuals and families hoping to learn more about EDS type IV (vascular Ehlers-Danlos syndrome) or to anyone needing help distributing information about this very rare disease. The Passport contains information about EDS type IV, its complications, their treatment, and their prevention. To obtain a Passport please contact Dru Leistritz at email@example.com.