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Collagen Diagnostic Laboratory (University of Washington)

General information

Collagen Diagnostic Laboratory
University of Washington
1959 NE Pacific St
Room NW 220 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
LOC1268064465Dec 19, 2013
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
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
Autosomal dominant Alport syndrome1 test
Autosomal recessive Alport syndrome1 test
Benign familial hematuria1 test
Bone fragility with contractures, arterial rupture, and deafness1 test
Bone mineral density quantitative trait locus 181 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 type 7A2 tests
Ehlers-Danlos syndrome type 7B2 tests
Ehlers-Danlos syndrome, arthrochalasia type1 test
Ehlers-Danlos syndrome, classic type2 tests
Ehlers-Danlos syndrome, kyphoscoliotic type 11 test
Ehlers-Danlos syndrome, kyphoscoliotic type, 22 tests
Ehlers-Danlos syndrome, musculocontractural type1 test
Ehlers-Danlos syndrome, periodontal type 11 test
Ehlers-Danlos syndrome, spondylocheirodysplastic type1 test
Ehlers-Danlos syndrome, type 43 tests
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
Larsen-like syndrome, B3GAT3 type1 test
Loeys-Dietz syndrome2 tests
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections2 tests
Marfan syndrome3 tests
Olmsted syndrome, X-linked1 test
Osteogenesis imperfecta2 tests
Osteogenesis imperfecta type 101 test
Osteogenesis imperfecta type 111 test
Osteogenesis imperfecta type 121 test
Osteogenesis imperfecta type 131 test
Osteogenesis imperfecta type 141 test
Osteogenesis imperfecta type 151 test
Osteogenesis imperfecta type 171 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
Osteoporosis with pseudoglioma1 test
Short stature-optic atrophy-Pelger-Huët anomaly syndrome1 test
Shprintzen-Goldberg syndrome1 test
Spondylo-ocular syndrome1 test
Sulfate transporter-related osteochondrodysplasia1 test
X-linked Alport syndrome2 tests