Test Catalogue by Test Code

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

Test Codesort descending Disorder or Panel Test Method
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
1317 Spondyloepiphyseal dysplasia, Maroteaux type
NGS

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