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

Test Codesort descending Disorder or Panel Test Method
1053 Avascular necrosis of femoral head, primary
NGS
1054 Bent bone dysplasia syndrome
Sanger
1059 Bethlem myopathy & Ullrich congenital muscular dystrophy NGS panel
NGS
1060 Boomerang dysplasia
NGS
1061 Boomerang dysplasia
Sanger
1063 Brachyolmia type 3
NGS
1064 Brittle cornea syndrome 1
NGS
1065 Brittle cornea syndrome 1
Del Dup
1066 Brittle cornea syndrome 2
NGS
1067 Brittle cornea syndrome 2
Del Dup
1068 Bruck syndrome 2
NGS
1069 Buschke-Ollendorff syndrome
NGS
1070 Buschke-Ollendorff syndrome
Del Dup
1071 Caffey disease
Sanger
1072 Campomelic dysplasia
Sanger
1073 Campomelic dysplasia
Del Dup
1074 Camurati-Engelmann disease
NGS
1075 Capillary malformation arteriovenous malformation
NGS
1076 Capillary malformation arteriovenous malformation
Del Dup
1077 Cardiac valvular dysplasia, X-linked
NGS
1078 Cartilage-hair hypoplasia
Sanger
1079 Chondrocalcinosis 2
NGS
1080 Cleidocranial dysplasia
NGS
1081 Congenital contractural arachnodactyly
NGS
1082 Congenital contractural arachnodactyly
Del Dup
1083 Cranioectodermal dysplasia 2
NGS
1084 Cranioectodermal dysplasia 2
Del Dup
1085 Cranioectodermal dysplasia 4
NGS
1086 Cranioectodermal dysplasia 4
Del Dup
1087 Craniometaphyseal dysplasia, autosomal dominant
NGS
1088 Apert syndrome
Sanger
1089 Apert syndrome
Sanger
1091 Beare-Stevenson cutis gyrata syndrome
Sanger
1092 Craniosynostosis, type 1
Sanger
1093 Craniosynostosis, type 1
Del Dup
1094 Crouzon syndrome
Sanger
1095 Crouzon syndrome
Sanger
1096 Crouzon syndrome with acanthosis nigricans
Sanger
1097 Jackson-Weiss syndrome
Sanger
1098 Muenke syndrome
Sanger
1099 Pfeiffer syndrome
Sanger
1100 Pfeiffer syndrome
Sanger
1101 Saethre-Chotzen syndrome
Sanger
1102 Saethre-Chotzen syndrome
Del Dup
1103 FGFR1, FGFR2 and FGFR3 related craniosynostosis panel
Sanger
1104 FGFR1, FGFR2, FGFR3 & TWIST1 related craniosynostosis panel
Sanger
1105 FGFR2 related craniosynostosis
NGS
1106 FGFR2 related craniosynostosis
Del Dup
1107 Cutis laxa, autosomal dominant 2 & autosomal recessive, type IA
NGS
1108 Cutis laxa, autosomal dominant 2 & autosomal recessive, type IA
Del Dup

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