Learn about ongoing Research in Heritable Disorders of Bone, Blood Vessels and Skin.  Current studies include basic research to understand the function of new genes that cause Osteogenesis Imperfecta, a study of pregnancies of women with Ehlers-Danlos Syndrome (EDS) type IV, and exome sequencing studies to find causative genes in families with Hypermobile Type EDS and Peridontal EDS (EDS type VIII).

We encourage enrollment and participation in the Research Repository from individuals whose cells or DNA have been studied by the Collagen Diagnostic Laboratory and other individuals who have been referred to us for other reasons.  Study subjects enroll by submitting a signed consent to the Research Repository.  Any individual who provides a sample to the Collagen Diagnostic Laboratory for clinical testing is offered the opportunity to participate.  Physicians who have patients with an uncharacterized connective tissue disorder or an "unmapped" form of a genetic disorder may also consider research participation for their patients.

The Collagen Diagnostic Laboratory will be closed on Monday, February 20th for Presidents' Day.  We will re-open on Tuesday, February 21st.

Copies of current Collagen Diagnostic Laboratory CLIA and CAP Certificates are now available online under the "Contact" page.

The Collagen Diagnostic Laboratory will be closed November 24th and 25th, December 26th, and January 2nd.  We will not be accepting samples on these days, so please plan accordingly.

The CDL offers an 8 gene testing panel for autosomal recessive Osteogenesis Imperfecta (OI).  The Recessive OI Panel simultaneously sequences the CRTAP, LEPRE1, PPIB, FKBP10, SERPINH1, PLOD2, SERPINF1, and SP7 genes to provide the most comprehensive and cost-effective analysis available for recessive OI.

Also available is a 5 gene testing panel for Vascular Aneurysm.  This panel sequences the ACTA2, COL3A1, SMAD3, TGFBR1 and TGFBR2 genes and is useful for identifying a causative gene in families with inherited connective tissue disorders that include vascular dissection and aneurysm.

In addition to PLOD2 testing, the CDL offers full sequencing of the FKBP10 gene for individuals with an OI phenotype plus multiple joint contractures.

The Collagen Diagnostic Laboratory offers clinical testing for six genes associated with autosomal recessive OI:  CRTAP, LEPRE1, PPIB, SERPINHI, FKBP10, and PLOD2.  Please consult the Test Guide: Osteogenesis Imperfecta, or contact one of the laboratory genetic counselors, for more information.

There is now an easier way to locate the University of Washington Collagen Diagnostic Lab on the internet.   The website address can be accessed by a second new web address.  Go to www.uwcdl.org  The new name is easier to remember and much easier to say.

Introducing our new "fillable" PDF Test Requisition Form.  From the Ordering a Test page, open the electronic form, type in the requested information, and print the form to send with the sample.

The Ehlers-Danlos National Foundation (EDNF) is holding their 2010 membership and education meeting this weekend in Baltimore (July 16-17). Melanie Pepin, a CDL genetic counselor, is an EDNF Professional Advisory committee member and will be giving a talk at the meeting on clinical research strategies for EDS at the University of Washington.

We are pleased to welcome you to our new website, designed by Stephen Schildbach.  Our website showcases the specialized genetic testing and clinical consultation services offered by the Collagen Diagnostic Laboratory.