Test Catalogue by Test Code

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

Test Codesort descending Disorder or Panel Test Method
1256 Osteoporosis-pseudoglioma syndrome
NGS
1257 Osteoporosis-pseudoglioma syndrome
Del Dup
1258 Otopalatodigital syndrome, type I / II
NGS
1259 Otospondylomegaepiphyseal dysplasia
NGS
1260 Otospondylomegaepiphyseal dysplasia
Del Dup
1261 Pallister-Hall syndrome
NGS
1262 Pallister-Hall syndrome
Del Dup
1263 Parastremmatic dwarfism
Sanger
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
1271 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
Sanger
1279 Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome
Del Dup
1280 Pseudoachondroplasia
NGS
1281 Pseudoachondroplasia
Sanger
1282 Pseudoachondroplasia
Sanger
1283 Rickets, hypophosphatemic, autosomal dominant
Sanger
1284 Rickets, hypophosphatemic, autosomal recessive, 1
Sanger
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
Sanger
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
Sanger
1303 Shprintzen-Goldberg craniosynostosis syndrome
Del Dup
1304 Smith-McCort dysplasia
NGS
1305 Smith-McCort dysplasia
Del Dup

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