Collagen Diagnostic Laboratory (University of Washington), CDL

General information

Collagen Diagnostic Laboratory, CDL
University of Washington
1959 NE Pacific St
Room H561 Health Sciences Bldg
United States - 98195-7470
Organization ID: 1058


  • Melanie Pepin
  • Ulrike Schwarze, Lab Director
    Phone: 206-616 -8565

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria not provided

    Summary of submissions to ClinVar

    Total submissions: 411


    GeneSubmissionsLast Updated
    COL3A1411Dec 19, 2013


    NameSubmissionsLast Updated
    Ehlers-Danlos syndrome, type 4411Dec 19, 2013

    Testing in GTR

    Disease nameNumber of tests
    Alport syndrome1 test
    Alport syndrome, X-linked recessive2 tests
    Alport syndrome, autosomal dominant1 test
    Alport syndrome, autosomal recessive1 test
    Aortic aneurysm, familial thoracic 41 test
    Aortic aneurysm, familial thoracic 61 test
    Aortic aneurysm, familial thoracic 71 test
    Aortic aneurysm, familial thoracic 81 test
    Aortic aneurysm, familial thoracic 91 test
    Aortic aneurysm, familial thoracic, SMAD3 related1 test
    Arterial tortuosity syndrome2 tests
    Benign familial hematuria1 test
    Bone fragility with contractures, arterial rupture, and deafness1 test
    Bone mineral density QTL18, osteoporosis1 test
    Bruck syndrome 11 test
    Bruck syndrome 21 test
    Cole-Carpenter syndrome 11 test
    Cole-Carpenter syndrome 21 test
    Collagen IV-related nephropathies1 test
    Congenital contractural arachnodactyly1 test
    Ehlers-Danlos syndrome2 tests
    Ehlers-Danlos syndrome progeroid type1 test
    Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss2 tests
    Ehlers-Danlos syndrome, classic type2 tests
    Ehlers-Danlos syndrome, hydroxylysine-deficient1 test
    Ehlers-Danlos syndrome, musculocontractural type1 test
    Ehlers-Danlos syndrome, procollagen proteinase deficient1 test
    Ehlers-Danlos syndrome, type 43 tests
    Ehlers-Danlos syndrome, type 7A2 tests
    Ehlers-Danlos syndrome, type 7B2 tests
    Ehlers-Danlos syndrome, type 81 test
    Geroderma osteodysplastica1 test
    Homocystinuria due to CBS deficiency1 test
    Hyperphosphatasemia with bone disease1 test
    Hypophosphatasia2 tests
    Infantile cortical hyperostosis1 test
    Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome1 test
    Loeys-Dietz syndrome2 tests
    Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections2 tests
    Marfan syndrome3 tests
    Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects1 test
    Osteochondrodysplasia1 test
    Osteogenesis imperfecta2 tests
    Osteogenesis imperfecta type 101 test
    Osteogenesis imperfecta type 121 test
    Osteogenesis imperfecta type 51 test
    Osteogenesis imperfecta type 71 test
    Osteogenesis imperfecta type 81 test
    Osteogenesis imperfecta type 91 test
    Osteogenesis imperfecta type I1 test
    Osteogenesis imperfecta with normal sclerae, dominant form1 test
    Osteogenesis imperfecta, type XI1 test
    Osteogenesis imperfecta, type xiii1 test
    Osteogenesis imperfecta, type xiv1 test
    Osteogenesis imperfecta, type xv1 test
    Osteogenesis imperfecta, type xvii1 test
    Osteoporosis with pseudoglioma1 test
    Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked1 test
    Short stature, optic nerve atrophy, and Pelger-Huet anomaly1 test
    Shprintzen-Goldberg syndrome1 test
    Spondylocheirodysplasia, Ehlers-Danlos syndrome-like1 test
    Spondyloocular syndrome, autosomal recessive1 test
    Thoracic aortic aneurysm and aortic dissection2 tests
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