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
1113
Desbuquois dysplasia 1
NGS
1114
Desbuquois dysplasia 1
Del Dup
1115
Diaphanospondylodysostosis
NGS
1116
Diastrophic dysplasia
Sanger
1117
Diastrophic dysplasia
Del Dup
1118
Digital arthropathy-brachydactyly, familial
NGS
1119
Dyggve-Melchior-Clausen disease
NGS
1120
Dyggve-Melchior-Clausen disease
Del Dup
1121
Dyssegmental dysplasia, Silverman-Handmaker type
NGS
1122
Dyssegmental dysplasia, Silverman-Handmaker type
Del Dup
1123
Ectopia lentis, isolated, autosomal dominant
NGS
1124
Ectopia lentis, isolated, autosomal dominant
Del Dup
1125
Ectopia lentis, isolated, autosomal recessive
NGS
1126
Ectopia lentis, isolated, autosomal recessive
Del Dup
1127
Ehlers-Danlos syndrome, musculocontractural type, 1
NGS
1128
Ehlers-Danlos syndrome, musculocontractural type, 1
Del Dup
1129
Ehlers-Danlos syndrome, spondylodysplastic type, 3
NGS
1130
Ehlers-Danlos syndrome, classic type, I
NGS
1131
Ehlers-Danlos syndrome, classic type, I
Del Dup
1132
Ehlers-Danlos syndrome, classic type, 2
NGS
1133
Ehlers-Danlos syndrome, classic type, 2
Del Dup
1134
Ehlers-Danlos syndrome, classic type NGS panel
NGS
1135
Ehlers-Danlos syndrome, vascular type
NGS
1136
Ehlers-Danlos syndrome, vascular type
Del Dup
1137
Ehlers-Danlos syndrome, kyphoscoliotic type, 1
NGS
1138
Ehlers-Danlos syndrome, arthrochalasia type NGS panel
NGS
1139
Ehlers-Danlos syndrome, arthrochalasia type NGS panel
Del Dup
1140
Ellis-van Creveld syndrome and Weyers acrofacial dysostosis NGS Panel
NGS
1141
Ellis-van Creveld syndrome and Weyers acrofacial dysostosis NGS Panel
Del Dup
1142
Exostoses, multiple, type I
NGS
1143
Exostoses, multiple, type I
Del Dup
1144
Exostoses, multiple, type II
NGS
1145
Exostoses, multiple, type II
Del Dup
1146
Multiple exostoses NGS panel
NGS
1147
Exudative vitreoretinopathy 4
NGS
1148
Exudative vitreoretinopathy 4
Del Dup
1149
Fibrochondrogenesis 1
NGS
1150
Fibrochondrogenesis 1
Del Dup
1151
Fibrochondrogenesis 2
NGS
1152
Fibrochondrogenesis 2
Del Dup
1153
Focal dermal hypoplasia
NGS
1154
Focal dermal hypoplasia
Del Dup
1155
Frontometaphyseal dysplasia
NGS
1156
Geleophysic dysplasia 1
NGS
1157
Geleophysic dysplasia 1
Del Dup
1158
Geleophysic dysplasia 2
Sanger
1159
Glomuvenous malformations
NGS
1160
Glomuvenous malformations
Del Dup
1161
Greig cephalopolysyndactyly syndrome
NGS
1162
Greig cephalopolysyndactyly syndrome
Del Dup
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