Connective Tissue Gene Tests
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Test Catalogue by Test Code
Disorder
Gene
Disease Group
Test Code
Panel
Browse CTGT's test catalogue, including NGS panels, by test code.
Test Code
Disorder / Panel Name
Test Code
Disorder or Panel
Test Method
1378
Weissenbacher-Zweymuller syndrome
Del Dup
1379
Weyers acrofacial dysostosis
NGS
1380
Weyers acrofacial dysostosis
Del Dup
1381
Wilson disease
NGS
1382
Wilson disease
Del Dup
1383
Witkop syndrome
Sanger
1384
Witkop syndrome
Del Dup
1385
Wolcott-Rallison syndrome
NGS
1386
Wolcott-Rallison syndrome
Del Dup
1387
Targeted Variant Testing - One mutation
Sanger
1388
Targeted Variant Testing - Two mutations
Sanger
1389
Maternal cell contamination testing
1390
Alagille syndrome 2
NGS
1391
Alagille syndrome 2
Del Dup
1392
Cleidocranial dysplasia
Del Dup
1393
Exudative vitreoretinopathy 1
Sanger
1394
Exudative vitreoretinopathy 1
Del Dup
1395
Exudative vitreoretinopathy 2, X-linked
Sanger
1396
Exudative vitreoretinopathy 2, X-linked
Del Dup
1397
Exudative vitreoretinopathy 5
NGS
1398
Exudative vitreoretinopathy 5
Del Dup
1399
Exudative vitreoretinopathy NGS panel
NGS
1400
Hajdu-Cheney syndrome
NGS
1401
Hajdu-Cheney syndrome
Del Dup
1404
Hereditary hemorrhagic telangiectasia type 1
NGS
1405
Hereditary hemorrhagic telangiectasia type 1
Del Dup
1406
Hereditary hemorrhagic telangiectasia type 2
Sanger
1407
Hereditary hemorrhagic telangiectasia type 2
Del Dup
1408
Hereditary hemorrhagic telangiectasia type 1 / 2
Sanger
1410
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Sanger
1411
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Del Dup
1412
Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly
NGS
1413
Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly
Del Dup
1414
Myhre syndrome
Sanger
1415
Myhre syndrome
Del Dup
1416
Myhre syndrome
Comp
1417
Norrie disease
Sanger
1418
Norrie disease
Del Dup
1419
Serpentine fibula-polycystic kidney syndrome
NGS
1420
Serpentine fibula-polycystic kidney syndrome
Del Dup
1423
Spondylocostal dysostosis 1, autosomal recessive
Sanger
1424
Spondylocostal dysostosis 1, autosomal recessive
Del Dup
1425
Spondylocostal dysostosis 2, autosomal recessive
Sanger
1426
Spondylocostal dysostosis 2, autosomal recessive
Del Dup
1427
Spondylocostal dysostosis 3, autosomal recessive
Sanger
1428
Spondylocostal dysostosis 3, autosomal recessive
Del Dup
1429
Spondylocostal dysostosis 4, autosomal recessive
Sanger
1430
Spondylocostal dysostosis 4, autosomal recessive
Del Dup
1432
Spondyloepimetaphyseal dysplasia with joint laxity type 2
NGS
1433
Spondyloepimetaphyseal dysplasia with joint laxity type 2
Del Dup
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