Connective Tissue Gene Tests
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Test Catalogue by Test Code
Disorder
Gene
Disease Group
Test Code
Panel
NGS
Browse CTGT's test catalogue, including NGS panels, by test code.
Test Code
Disorder / Panel Name
Test Code
Disorder or Panel
Test Method
1264
Parkes Weber syndrome
NGS
1265
Parkes Weber syndrome
Del Dup
1266
Periventricular heterotopia, Ehlers-Danlos variant (PVNH4)
Sanger
1267
Periventricular nodular heterotopia 1
NGS
1268
Platyspondylic lethal skeletal dysplasia, Torrance type
NGS
1269
Platyspondylic lethal skeletal dysplasia, Torrance type
Del Dup
1270
Platyspondylic lethal skeletal dysplasia, Torrance type
Sanger
1272
Polydactyly, preaxial IV & postaxial, type A1
NGS
1273
Polydactyly, preaxial IV & postaxial, type A1
Del Dup
1274
Polydactyly, postaxial, type A1
Sanger
1275
Polydactyly, postaxial, type A1
Del Dup
1276
Progressive pseudorheumatoid arthropathy of childhood
Sanger
1277
Progressive pseudorheumatoid arthropathy of childhood
Del Dup
1278
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome
NGS
1279
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome
Del Dup
1280
Pseudoachondroplasia
NGS
1283
Rickets, hypophosphatemic, autosomal dominant
Sanger
1284
Rickets, hypophosphatemic, autosomal recessive, 1
NGS
1285
Rickets, hypophosphatemic, autosomal recessive, 1
Del Dup
1286
Rickets, hypophosphatemic, autosomal recessive, 2
NGS
1287
Rickets, hypophosphatemic, autosomal recessive, 2
Del Dup
1288
Rickets, hypophosphatemic, X-linked dominant
NGS
1289
Rickets, hypophosphatemic, X-linked dominant
Del Dup
1290
Rickets, vitamin D-dependent type I
NGS
1291
Rickets, vitamin D-dependent type I
Del Dup
1292
Scapuloperoneal spinal muscular atrophy
NGS
1293
Schwartz-Jampel syndrome, type 1
NGS
1294
Schwartz-Jampel syndrome, type 1
Del Dup
1295
Severe achondroplasia with developmental delay and acanthosis nigricans
Sanger
1296
Short-rib thoracic dysplasia 6 with or without polydactyly
NGS
1297
Short-rib thoracic dysplasia 6 with or without polydactyly
Del Dup
1298
Short-rib thoracic dysplasia 3 with or without polydactyly
NGS
1299
Short-rib thoracic dysplasia 3 with or without polydactyly
Del Dup
1300
Short-rib thoracic dysplasia 7 with or without polydactyly
NGS
1301
Short-rib thoracic dysplasia 7 with or without polydactyly
Del Dup
1302
Shprintzen-Goldberg craniosynostosis syndrome
NGS
1303
Shprintzen-Goldberg craniosynostosis syndrome
Del Dup
1304
Smith-McCort dysplasia
NGS
1305
Smith-McCort dysplasia
Del Dup
1306
Spinal muscular atrophy, distal, congenital nonprogressive
NGS
1307
Spinal muscular atrophy, distal, X-linked 3
NGS
1308
Spinal muscular atrophy, distal, X-linked 3
Del Dup
1309
Spondylocarpotarsal synostosis syndrome
NGS
1310
Spondylocarpotarsal synostosis syndrome
Del Dup
1311
Spondyloepimetaphyseal dysplasia, Missouri type
NGS
1312
Spondyloepimetaphyseal dysplasia, Missouri type
Del Dup
1313
Spondyloepimetaphyseal dysplasia, Strudwick type
NGS
1314
Spondyloepimetaphyseal dysplasia, Strudwick type
Del Dup
1315
Spondyloepiphyseal dysplasia congenita
NGS
1316
Spondyloepiphyseal dysplasia congenita
Del Dup
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