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
1001
Achondrogenesis, type IA
NGS
1002
Achondrogenesis, type IA
Del Dup
1003
Achondrogenesis, type IB - SLC26A2
Sanger
1004
Achondrogenesis, type IB - SLC26A2
Del Dup
1005
Achondrogenesis, type II / Hypochondrogenesis
NGS
1006
Achondrogenesis, type II / Hypochondrogenesis
Del Dup
1007
Achondroplasia / Hypochondroplasia
NGS
1008
Achondroplasia / Hypochondroplasia
Sanger
1010
Acromesomelic dysplasia, Maroteaux type
NGS
1011
Acromesomelic dysplasia, Maroteaux type
Del Dup
1012
Acromicric dysplasia
Sanger
1013
Adams-Oliver Syndrome 1
NGS
1014
Adams-Oliver Syndrome 1
Del Dup
1015
Alagille syndrome 1
NGS
1016
Alagille syndrome 1
Del Dup
1017
Alport syndrome, X-linked
NGS
1018
Alport syndrome, X-linked
Del Dup
1019
Anauxetic dysplasia
Sanger
1020
Aortic aneurysm, familial thoracic 3
Sanger
1021
Aortic aneurysm, familial thoracic 3
Del Dup
1022
Aortic aneurysm, familial thoracic 3 / 4 / 5 / 6
Sanger
1023
Aortic aneurysm, familial thoracic 4
NGS
1024
Aortic aneurysm, familial thoracic 4
Del Dup
1025
Aortic aneurysm, familial thoracic 5
Sanger
1026
Aortic aneurysm, familial thoracic 5
Del Dup
1027
Aortic aneurysm, familial thoracic 5 / 3
Sanger
1028
Aortic aneurysm, familial thoracic 5 / 3 , SMAD3 & TGFB2 related
Sanger
1029
Aortic aneurysm, familial thoracic 6
Sanger
1030
Aortic aneurysm, familial thoracic 6
Del Dup
1031
Aortic aneurysm, familial thoracic 7
NGS
1032
Aortic aneurysm, familial thoracic, SMAD3 related
Sanger
1033
Aortic aneurysm, familial thoracic, SMAD3 related
Del Dup
1034
Aortic aneurysm, familial thoracic, TGFB2 related
Sanger
1035
Aortic aneurysm, familial thoracic, TGFB2 related
Del Dup
1036
Arterial calcification, generalized, of infancy, 1
NGS
1037
Arterial calcification, generalized, of infancy, 1
Del Dup
1038
Arterial tortuosity syndrome
Sanger
1039
Arterial tortuosity syndrome
Del Dup
1040
Short-rib thoracic dysplasia 2 with or without polydactyly
NGS
1041
Short-rib thoracic dysplasia 2 with or without polydactyly
Del Dup
1042
Asphyxiating thoracic dystrophy 3 (ATD3)
Sanger
1043
Asphyxiating thoracic dystrophy 3 (ATD3)
Del Dup
1044
Short-rib thoracic dysplasia 4 with or without polydactyly
NGS
1045
Short-rib thoracic dysplasia 4 with or without polydactyly
Del Dup
1046
Short-rib thoracic dysplasia 5 with or without polydactyly
NGS
1047
Short-rib thoracic dysplasia 5 with or without polydactyly
Del Dup
1048
Atelosteogenesis, type I / III
NGS
1049
Atelosteogenesis, type I / III
Sanger
1051
Atelosteogenesis, type II
Sanger
1052
Atelosteogenesis, type II
Del Dup
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