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

Test Codesort descending 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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