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
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
NGS
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
1109 Cutis laxa, autosomal recessive 1B
NGS

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