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

Test Codesort descending Disorder or Panel Test Method
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
Sanger
1110 Cutis laxa, autosomal recessive 1B
Del Dup
1111 Cutis laxa, autosomal recessive 1A
Sanger
1112 Cutis laxa, autosomal recessive 1A
Del Dup
1113 Desbuquois dysplasia 1
Sanger
1114 Desbuquois dysplasia 1
Del Dup
1115 Diaphanospondylodysostosis
Sanger
1116 Diastrophic dysplasia
Sanger
1117 Diastrophic dysplasia
Del Dup
1118 Digital arthropathy-brachydactyly, familial
Sanger
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
Sanger
1128 Ehlers-Danlos syndrome, musculocontractural type
Del Dup
1129 Ehlers-Danlos syndrome, spondylocheiro dysplastic form
NGS
1130 Ehlers-Danlos syndrome, type I / II - (COL5A1)
NGS
1131 Ehlers-Danlos syndrome, type I / II - (COL5A1)
Del Dup
1132 Ehlers-Danlos syndrome, type I / II - (COL5A2)
NGS
1133 Ehlers-Danlos syndrome, type I / II - (COL5A2)
Del Dup
1134 Ehlers-Danlos syndrome, classic type NGS panel
NGS
1135 Ehlers-Danlos syndrome, type IV
NGS
1136 Ehlers-Danlos syndrome, type IV
Del Dup
1137 Ehlers-Danlos syndrome, type VI
NGS
1138 Ehlers-Danlos syndrome, type VIIA / VIIB
Sanger
1139 Ehlers-Danlos syndrome, type VIIA / VIIB
Del Dup
1140 Ellis-van Creveld syndrome NGS Panel
NGS
1141 Ellis-van Creveld syndrome NGS Panel
Del Dup
1142 Exostoses, multiple, type I
Sanger
1143 Exostoses, multiple, type I
Del Dup
1144 Exostoses, multiple, type II
Sanger
1145 Exostoses, multiple, type II
Del Dup
1146 Exostoses, multiple, type I & II
Sanger
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
Sanger
1154 Focal dermal hypoplasia
Del Dup

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