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 dru2@uw.edu.

Important billing update!  Dates of service (sample received date) after January 1st, 2013 will be billed using the new 2013 AMA Molecular Pathology CPT codes.  Detailed information on new prices and codes is available under Costs and CPT Codes as a printable document and separately under each test listing.

The Collagen Diagnostic Laboratory will be closed Tuesday, December 25th, 2012 and Tuesday, January 1st, 2013.  We will not be accepting samples these days; please plan accordingly.

The Collagen Diagnostic Laboratory is now offering deletion/duplication analysis by array CGH for each of our clinical tests and panels.  Deletion/duplication analysis may be ordered in addition to genomic sequencing or separately.  Requests array CGH deletion/duplication analysis should be specified on our new requisition form.  Please refer to test listings for prices and CPT codes.  For assistance in determining which gene test to request and whether to include deletion/duplication studies, our genetic counselors are available to assist you.

Recent publications have shown that Osteogenesis Imperfecta type V (OI type V) is caused by heterozygous mutations in the IFITM5 gene. 

The CDL now offers genomic sequencing of IFITM5 for those patients fitting the clinical diagnosis of OI type V (characterized by calcification of the forearm interosseous membrane, radial head dislocation, and hyperplastic callus formation).  Providers with patients fitting the clinical picture of OI type V, particuarly those already tested in the CDL, are encouraged to contact the laboratory to discuss additional testing. 

The Collagen Diagnostic Laboratory is pleased to welcome two new clinicians to our group: Dr. Mitzi Murray, Medical Geneticist and Associate Director, and Sam Bailey, Genetic Counselor. 

The CDL is excited to announce an addition to our Vascular Aneurysm Panel:  as of August 6, 2012 we will be including full sequencing of the TGFB2 gene in the panel.  We are also offering genomic sequencing of TGFB2 as an individual gene.  See Test Guide: Familial Aneurysm for more information.

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 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.