It is now clear that missense and synonymous variants within exons and some intronic variants can affect pre-mRNA splicing. While predictive programs can identify alterations in splice enhancers and suppressors and creation or deletion of recognition sequences, they are poor at determining if they are used. Additionally, it is difficult to determine the splice outcomes of variants identified by genomic sequencing. The CDL now offers mRNA splicing studies of genes that are included in our test menu and are expressed in dermal fibroblasts.
COMPREHENSIVE TESTING FOR EHLERS-DANLOS SYNDROME
Peter Byers, the director of the CDL, developed the use of analysis of collagens made by dermal fibroblasts as a diagnostic test (“collagen screening”) for osteogenesis imperfecta (OI) and some forms of Ehlers-Danlos syndrome (EDS) in 1984. Since then, the Collagen Diagnostic Laboratory at the University of Washington has grown into the premier genetic testing laboratory for these and other collagen disorders.
We are pleased to announce that genetic testing for EDS periodontal type is available individually and through our new Comprehensive EDS Panel. Additionally, the CDL offers an expanded 33 gene panel for Osteogenesis Imperfecta and Genetic Bone Disorders, a 25 gene panel for familial Arterial Aneurysm, and new genetic testing for Osteopetrosis, Cutis Laxa, Ectopia lentis, and Complex EDS-like Disorders.
PRE-AUTH ASSISTANCE AVAILABLE! The Collagen Diagnostic Laboratory at the CPDx is committed to providing quality, affordable genetic testing to patients. Most insurance companies require pre-authorization of services to determine whether genetic testing is medically necessary and a covered service. The CPDx can file pre-verification/pre-authorization with the insurance company and communicate benefits to the provider. Please consult our Billing page for more information.
One Laboratory: An Array of Testing Possibilities. The Collagen Diagnostic Laboratory, as part of the Laboratory for Precision Diagnostics (LPDx), offers a comprehensive approach to genetic testing and research. The aim of the LPDx is to provide rapid genetic diagnostic testing with a commitment to understanding mechanism and outcome. Clinicians and scientists work together as a team to investigate and solve the unknowns in inherited disease.
The Collagen Diagnostic Laboratory (CDL) is housed in the Department of Pathology at 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 provide full insurance pre-authorization services for our clients and 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.