Test Catalogue by Test Code

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

Test Codesort descending Disorder or Panel Test Method
1318 Spondyloepiphyseal dysplasia tarda, X-linked
Sanger
1319 Spondyloepiphyseal dysplasia tarda, X-linked
Del Dup
1320 Spondyloepiphyseal dysplasia with congenital joint dislocations
NGS
1321 Spondyloepiphyseal dysplasia with congenital joint dislocations
Del Dup
1322 Spondylometaphyseal dysplasia, Kozlowski type
NGS
1323 Spondyloperipheral dysplasia
NGS
1324 Spondyloperipheral dysplasia
Del Dup
1325 Spondyloperipheral dysplasia
Sanger
1330 Stickler syndrome NGS panel - Recessive
NGS
1331 Stickler syndrome, type I
NGS
1332 Stickler syndrome, type I
Del Dup
1333 Stickler syndrome, type II
NGS
1334 Stickler syndrome, type II
Del Dup
1335 Stickler syndrome, type III
NGS
1336 Stickler syndrome, type III
Del Dup
1337 Stickler syndrome core NGS panel
NGS
1338 Stuve-Wiedemann syndrome
NGS
1339 Stuve-Wiedemann syndrome
Del Dup
1340 Thanatophoric dysplasia, type I / II
NGS
1341 Thanatophoric dysplasia, type I / II
Sanger
1343 Three M syndrome 1
NGS
1344 Three M syndrome 1
Del Dup
1345 Three M syndrome 2
NGS
1346 Three M syndrome 2
Del Dup
1347 Three M syndrome 3
Sanger
1348 Three M syndrome 3
Del Dup
1349 Thrombocytopenia and absent radius syndrome
Sanger
1350 Thrombocytopenia and absent radius syndrome
Del Dup
1351 Tooth agenesis, selective, 1
Sanger
1352 Tooth agenesis, selective, 1
Del Dup
1353 Torg-Winchester syndrome
NGS
1354 Torg-Winchester syndrome
Del Dup
1355 Treacher Collins syndrome 1
NGS
1356 Treacher Collins syndrome 1
Del Dup
1357 Treacher Collins syndrome 2
Sanger
1358 Treacher Collins syndrome 2
Del Dup
1359 Treacher Collins syndrome 3
Sanger
1360 Treacher Collins syndrome 3
Del Dup
1361 Trichorhinophalangeal syndrome, type I / III
NGS
1362 Trichorhinophalangeal syndrome, type I / III
Del Dup
1368 Ullrich congenital muscular dystrophy
Sanger
1369 Van Buchem disease, type 2
NGS
1370 Van Buchem disease, type 2
Del Dup
1371 Wagner vitreoretinopathy
NGS
1372 Wagner vitreoretinopathy
Del Dup
1373 Weill-Marchesani syndrome 2
NGS
1374 Weill-Marchesani syndrome 2
Del Dup
1375 Weill-Marchesani syndrome 1
NGS
1376 Weill-Marchesani syndrome 1
Del Dup
1377 Weissenbacher-Zweymuller syndrome
NGS

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