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
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: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 414
Gene
Gene | Submissions | Last Updated |
---|---|---|
COL3A1 | 411 | Dec 19, 2013 |
CREB3L1 | 1 | Nov 20, 2017 |
LOC126806446 | 5 | Dec 19, 2013 |
SERPINH1 | 2 | Jan 11, 2019 |
Condition
Name | Submissions | Last Updated |
---|---|---|
Ehlers-Danlos syndrome, type 4 | 411 | Dec 19, 2013 |
Osteogenesis imperfecta | 1 | Nov 20, 2017 |
Osteogenesis imperfecta type 10 | 2 | Jan 11, 2019 |
Testing in GTR
Disease name | Number of tests |
---|---|
Alport syndrome | 1 test |
Aortic aneurysm, familial thoracic 4 | 1 test |
Aortic aneurysm, familial thoracic 6 | 1 test |
Aortic aneurysm, familial thoracic 7 | 1 test |
Aortic aneurysm, familial thoracic 8 | 1 test |
Aortic aneurysm, familial thoracic 9 | 1 test |
Aortic aneurysm, familial thoracic, SMAD3 related | 1 test |
Arterial tortuosity syndrome | 1 test |
Autosomal dominant Alport syndrome | 1 test |
Autosomal recessive Alport syndrome | 1 test |
Benign familial hematuria | 1 test |
Bone fragility with contractures, arterial rupture, and deafness | 1 test |
Bone mineral density quantitative trait locus 18 | 1 test |
Bruck syndrome 1 | 1 test |
Bruck syndrome 2 | 1 test |
Classic homocystinuria | 1 test |
Cole-Carpenter syndrome 1 | 1 test |
Cole-Carpenter syndrome 2 | 1 test |
Collagen IV-related nephropathies | 1 test |
Congenital contractural arachnodactyly | 1 test |
Ehlers-Danlos syndrome | 2 tests |
Ehlers-Danlos syndrome progeroid type | 1 test |
Ehlers-Danlos syndrome type 7A | 2 tests |
Ehlers-Danlos syndrome type 7B | 2 tests |
Ehlers-Danlos syndrome, arthrochalasia type | 1 test |
Ehlers-Danlos syndrome, classic type | 2 tests |
Ehlers-Danlos syndrome, kyphoscoliotic type 1 | 1 test |
Ehlers-Danlos syndrome, kyphoscoliotic type, 2 | 2 tests |
Ehlers-Danlos syndrome, musculocontractural type | 1 test |
Ehlers-Danlos syndrome, periodontal type 1 | 1 test |
Ehlers-Danlos syndrome, spondylocheirodysplastic type | 1 test |
Ehlers-Danlos syndrome, type 4 | 3 tests |
Familial thoracic aortic aneurysm and aortic dissection | 2 tests |
Geroderma osteodysplastica | 1 test |
Hyperphosphatasemia with bone disease | 1 test |
Hypophosphatasia | 2 tests |
Infantile cortical hyperostosis | 1 test |
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | 1 test |
Larsen-like syndrome, B3GAT3 type | 1 test |
Loeys-Dietz syndrome | 2 tests |
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections | 2 tests |
Marfan syndrome | 3 tests |
Olmsted syndrome, X-linked | 1 test |
Osteogenesis imperfecta | 2 tests |
Osteogenesis imperfecta type 10 | 1 test |
Osteogenesis imperfecta type 11 | 1 test |
Osteogenesis imperfecta type 12 | 1 test |
Osteogenesis imperfecta type 13 | 1 test |
Osteogenesis imperfecta type 14 | 1 test |
Osteogenesis imperfecta type 15 | 1 test |
Osteogenesis imperfecta type 17 | 1 test |
Osteogenesis imperfecta type 5 | 1 test |
Osteogenesis imperfecta type 7 | 1 test |
Osteogenesis imperfecta type 8 | 1 test |
Osteogenesis imperfecta type 9 | 1 test |
Osteogenesis imperfecta type I | 1 test |
Osteogenesis imperfecta with normal sclerae, dominant form | 1 test |
Osteoporosis with pseudoglioma | 1 test |
Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome | 1 test |
Shprintzen-Goldberg syndrome | 1 test |
Spondylo-ocular syndrome | 1 test |
Sulfate transporter-related osteochondrodysplasia | 1 test |
X-linked Alport syndrome | 2 tests |