Collagen Diagnostic Laboratory (University of Washington)

General information

Collagen Diagnostic Laboratory
University of Washington
1959 NE Pacific St
Room H561 Health Sciences Bldg
Seattle
Washington
United States - 98195-7470
http://uwcpdx.org/collagen-diagnostic-laboratory/
Organization ID: 1058

Personnel

  • Melanie Pepin
  • Ulrike Schwarze, Lab Director
    Phone: 206-616 -8565
    Email: uli@uw.edu

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 414

Gene

GeneSubmissionsLast Updated
COL3A1411Dec 19, 2013
CREB3L11Nov 20, 2017
SERPINH12Jan 11, 2019

Condition

NameSubmissionsLast Updated
Ehlers-Danlos syndrome, type 4411Dec 19, 2013
Osteogenesis imperfecta1Nov 20, 2017
Osteogenesis imperfecta type 102Jan 11, 2019

Testing in GTR

Disease nameNumber of tests
Alport syndrome1 test
Alport syndrome 1, X-linked recessive2 tests
Alport syndrome 3, 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 syndrome1 test
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
Classic homocystinuria1 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
Familial thoracic aortic aneurysm and aortic dissection2 tests
Geroderma osteodysplastica1 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
Support Center