Browse CTGT's test catalogue, including NGS panels, by test code.

Test Codesort descending 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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