Connective Tissue Gene Tests
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Test Catalogue by Test Code
Disorder
Gene
Disease Group
Test Code
Panel
Browse CTGT's test catalogue, including NGS panels, by test code.
Test Code
Disorder / Panel Name
Test Code
Disorder or Panel
Test Method
1436
Arterial calcification, generalized, of infancy, 2
NGS
1437
Arterial calcification, generalized, of infancy, 2
Del Dup
1438
Arterial calcification, generalized, of infancy NGS panel
NGS
1439
Pseudoxanthoma elasticum
NGS
1440
Pseudoxanthoma elasticum
Del Dup
1442
Stiff skin syndrome
NGS
1443
Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
Del Dup
1444
Achondrogenesis, type IA
Comp
1445
Achondrogenesis, type IB - SLC26A2
Comp
1446
Achondrogenesis, type II / Hypochondrogenesis
Comp
1447
Acromesomelic dysplasia, Maroteaux type
Comp
1448
Adams-Oliver Syndrome 1
Comp
1449
Adams-Oliver syndrome 2
NGS
1450
Adams-Oliver syndrome 2
Del Dup
1451
Adams-Oliver syndrome 2
Comp
1452
Adams-Oliver syndrome 3
NGS
1453
Adams-Oliver syndrome 3
Del Dup
1454
Adams-Oliver syndrome 3
Comp
1455
Adams-Oliver syndrome 4
NGS
1456
Adams-Oliver syndrome 4
Del Dup
1457
Adams-Oliver syndrome 4
Comp
1461
Alagille syndrome 1
Comp
1462
Alagille syndrome 2
Comp
1463
Alport syndrome, X-linked
Comp
1464
Aortic aneurysm, familial thoracic 3
Comp
1465
Aortic aneurysm, familial thoracic 3 / 4 / 5 / 6
Del Dup
1466
Aortic aneurysm, familial thoracic 3 / 4 / 5 / 6
Comp
1467
Aortic aneurysm, familial thoracic 4
Comp
1468
Aortic aneurysm, familial thoracic 5
Comp
1469
Aortic aneurysm, familial thoracic 5 / 3
Del Dup
1470
Aortic aneurysm, familial thoracic 5 / 3
Comp
1471
Aortic aneurysm, familial thoracic 5 / 3 , SMAD3 & TGFB2 related
Del Dup
1472
Aortic aneurysm, familial thoracic 5 / 3 , SMAD3 & TGFB2 related
Comp
1473
Aortic aneurysm, familial thoracic 6
Comp
1474
Aortic aneurysm, familial thoracic, SMAD3 related
Comp
1475
Aortic aneurysm, familial thoracic, TGFB2 related
Comp
1476
Arterial calcification, generalized, of infancy, 1
Comp
1477
Arterial calcification, generalized, of infancy, 2
Comp
1478
Arterial calcification, generalized, of infancy NGS panel
Del Dup
1479
Arterial calcification, generalized, of infancy NGS panel
Comp
1480
Arterial tortuosity syndrome
Comp
1481
Short-rib thoracic dysplasia 2 with or without polydactyly
Comp
1482
Asphyxiating thoracic dystrophy 3 (ATD3)
Comp
1483
Short-rib thoracic dysplasia 4 with or without polydactyly
Comp
1484
Short-rib thoracic dysplasia 5 with or without polydactyly
Comp
1485
Atelosteogenesis, type II
Comp
1486
Bethlem myopathy & Ullrich congenital muscular dystrophy NGS panel
Del Dup
1487
Bethlem myopathy & Ullrich congenital muscular dystrophy NGS panel
Comp
1488
Brittle cornea syndrome 1
Comp
1489
Brittle cornea syndrome 2
Comp
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