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
1163
Hereditary motor and sensory neuropathy, type IIC
NGS
1164
Homocystinuria
NGS
1165
Homocystinuria
Del Dup
1166
Hyperostosis corticalis generalisata, benign form of worth, with torus palatinus
NGS
1167
Hyperostosis corticalis generalisata, benign form of worth, with torus palatinus
Del Dup
1168
Hypophosphatasia, infantile, childhood & adult types
Sanger
1169
Hypophosphatasia, infantile, childhood & adult types
Del Dup
1170
Kniest dysplasia
NGS
1171
Kniest dysplasia
Del Dup
1172
Larsen syndrome, autosomal dominant
NGS
1173
Larsen syndrome, autosomal dominant
Sanger
1175
Larsen syndrome, autosomal recessive
NGS
1176
Larsen syndrome, autosomal recessive
Del Dup
1177
Loeys-Dietz syndrome 1
Sanger
1178
Loeys-Dietz syndrome 1
Del Dup
1179
Loeys-Dietz syndrome 2
Sanger
1180
Loeys-Dietz syndrome 2
Del Dup
1181
Loeys-Dietz syndrome core NGS panel
NGS
1182
Loeys-Dietz syndrome 3
Sanger
1183
Loeys-Dietz syndrome 3
Del Dup
1184
Loeys-Dietz syndrome 4
Sanger
1185
Loeys-Dietz syndrome 4
Del Dup
1186
Loeys-Dietz syndrome 1 / 2 / 3 / 4 (LDS1 / LDS2 / LDS3 / LDS4)
Sanger
1187
Marfan syndrome, type I
NGS
1188
Marfan syndrome, type I
Del Dup
1189
Marfan syndrome, type II
Sanger
1190
Marfan syndrome, type II
Del Dup
1191
Marfan syndrome, type I / II NGS panel
NGS
1192
Marfan syndrome and Loeys-Dietz syndrome NGS panel
NGS
1193
Marshall syndrome
NGS
1194
Marshall syndrome
Del Dup
1195
Melnick-Needles syndrome
NGS
1196
Menkes disease
NGS
1197
Menkes disease
Del Dup
1198
Metaphyseal anadysplasia 1
NGS
1199
Metaphyseal anadysplasia 1
Del Dup
1200
Metaphyseal anadysplasia 2
NGS
1201
Metaphyseal anadysplasia 2
Del Dup
1202
Metaphyseal anadysplasia NGS panel
NGS
1203
Metaphyseal chondrodysplasia, Schmid type
Sanger
1204
Metaphyseal dysplasia without hypotrichosis
Sanger
1205
Metatropic dysplasia
NGS
1206
Multiple epiphyseal dysplasia
NGS
1209
Multiple epiphyseal dysplasia panel
Sanger
1210
Nail-patella syndrome
NGS
1211
Occipital horn syndrome
NGS
1212
Occipital horn syndrome
Del Dup
1213
Omodysplasia 1
NGS
1213
Omodysplasia NGS panel
NGS
1214
Omodysplasia 1
Del Dup
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